commit df4bbec30a36ad0ab0af6d3588a36df3686578ff
Author: davidlagorce <david.lagorce@inserm.fr>
Date: Sun Oct 3 10:11:04 2021 +0200
OCT 2021
diff --git for fr_product1.xml between September 2021 and October 2021
old mode 100755
new mode 100644
index ff435fa..e7c6d2e
a/​Rareb/​Rare
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82087 ····​<Disorder·​id="796">82060 ····​<Disorder·​id="796">
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83026 ··············​<Contents>Maladie·​endocrinienne·​rare·​caractérisée·​par·​une·​hypoglycémie·​néonatale,​·​un·​ictère·​cholestatique·​prolongée·​et·​des·​crises·​convulsives.​·​On·​observe·​de·​faibles·​taux·​plasmatiques·​d'ACTH·​et·​de·​cortisol·​en·​l'absence·​d'anomalies·​structurelles·​de·​l'hypophyse,​·​en·​association·​avec·​un·​déficit·​partiel·​en·​hormone·​de·​croissance.​</​Contents>
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83049 ····​<Disorder·​id="792">83032 ····​<Disorder·​id="792">
95877 ······​</​ExternalReferenceList​>95860 ······​</​ExternalReferenceList​>
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114359 ········​</​DisorderFlag>114307 ········​</​DisorderFlag>
114360 ······​</​DisorderFlagList>114308 ······​</​DisorderFlagList>
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134524 ······​<DisorderDisorderAsso​ciationList·​count="0">134472 ······​<DisorderDisorderAsso​ciationList·​count="0">
134525 ······​</​DisorderDisorderAssoc​iationList>134473 ······​</​DisorderDisorderAssoc​iationList>
134526 ······​<SummaryInformationLi​st·​count="0">134474 ······​<SummaryInformationLi​st·​count="1">
134475 ········​<SummaryInformation·​id="129249"·​lang="fr">
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134477 ············​<TextSection·​id="168379"·​lang="fr">
134478 ··············​<TextSectionType·​id="16907">
134479 ················​<Name·​lang="fr">Définition<​/​Name>
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134482 ············​</​TextSection>
134483 ··········​</​TextSectionList>
134484 ········​</​SummaryInformation>
134527 ······​</​SummaryInformationLis​t>134485 ······​</​SummaryInformationLis​t>
134528 ····​</​Disorder>134486 ····​</​Disorder>
134529 ····​<Disorder·​id="1636">134487 ····​<Disorder·​id="1636">
138841 ··········​</​DisorderDisorderAssoc​iationType>138799 ··········​</​DisorderDisorderAssoc​iationType>
138842 ········​</​DisorderDisorderAssoc​iation>138800 ········​</​DisorderDisorderAssoc​iation>
138843 ······​</​DisorderDisorderAssoc​iationList>138801 ······​</​DisorderDisorderAssoc​iationList>
138844 ······​<SummaryInformationLi​st·​count="0">138802 ······​<SummaryInformationLi​st·​count="1">
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138809 ··············​<Contents>Syndrome·​de·​malformation·​congénitale·​rare,​·​se·​manifestant·​le·​plus·​souvent·​par·​une·​microsomie·​hémifaciale·​associée·​à·​des·​malformations·​auriculaires·​et·​oculaires,​·​et·​des·​anomalies·​vertébrales·​de·​gravité·​variable.​·​Il·​peut·​être·​associé·​à·​d'autres·​malformations·​affectant·​le·​coeur,​·​les·​reins,​·​le·​système·​nerveux·​central,​·​le·​système·​digestif·​et·​le·​squelette.​</​Contents>
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138811 ··········​</​TextSectionList>
138812 ········​</​SummaryInformation>
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138846 ····​</​Disorder>138814 ····​</​Disorder>
138847 ····​<Disorder·​id="17045">138815 ····​<Disorder·​id="17045">
143991 ······​</​ExternalReferenceList​>143959 ······​</​ExternalReferenceList​>
143992 ······​<DisorderDisorderAsso​ciationList·​count="0">143960 ······​<DisorderDisorderAsso​ciationList·​count="0">
143993 ······​</​DisorderDisorderAssoc​iationList>143961 ······​</​DisorderDisorderAssoc​iationList>
143994 ······​<SummaryInformationLi​st·​count="0">143962 ······​<SummaryInformationLi​st·​count="1">
143963 ········​<SummaryInformation·​id="129245"·​lang="fr">
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143965 ············​<TextSection·​id="168375"·​lang="fr">
143966 ··············​<TextSectionType·​id="16907">
143967 ················​<Name·​lang="fr">Définition<​/​Name>
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143971 ··········​</​TextSectionList>
143972 ········​</​SummaryInformation>
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143996 ····​</​Disorder>143974 ····​</​Disorder>
143997 ····​<Disorder·​id="1566">143975 ····​<Disorder·​id="1566">
154828 ······​</​ExternalReferenceList​>154806 ······​</​ExternalReferenceList​>
154829 ······​<DisorderDisorderAsso​ciationList·​count="0">154807 ······​<DisorderDisorderAsso​ciationList·​count="0">
154830 ······​</​DisorderDisorderAssoc​iationList>154808 ······​</​DisorderDisorderAssoc​iationList>
154831 ······​<SummaryInformationLi​st·​count="1">154809 ······​<SummaryInformationLi​st·​count="0">
154832 ········<SummaryInformation·id="-​1"·lang="fr">
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166586 ····​<Disorder·​id="2000">166543 ····​<Disorder·​id="2000">
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167712 ····​<Disorder·​id="2014">167662 ····​<Disorder·​id="2014">
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167860 ····​<Disorder·​id="2015">167803 ····​<Disorder·​id="2015">
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177320 ····​<Disorder·​id="2189">177283 ····​<Disorder·​id="2189">
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186837 ····​<Disorder·​id="2071">186765 ····​<Disorder·​id="2071">
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188428 ····​<Disorder·​id="19652">188328 ····​<Disorder·​id="19652">
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196032 ··········​</​TextSectionList>
196033 ········​</​SummaryInformation>
196124 ······​</​SummaryInformationLis​t>196034 ······​</​SummaryInformationLis​t>
196125 ····​</​Disorder>196035 ····​</​Disorder>
196126 ····​<Disorder·​id="2124">196036 ····​<Disorder·​id="2124">
199640 ······​</​ExternalReferenceList​>199550 ······​</​ExternalReferenceList​>
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199562 ··········​</​TextSectionList>
199563 ········​</​SummaryInformation>
199644 ······​</​SummaryInformationLis​t>199564 ······​</​SummaryInformationLis​t>
199645 ····​</​Disorder>199565 ····​</​Disorder>
199646 ····​<Disorder·​id="19630">199566 ····​<Disorder·​id="19630">
201794 ······​</​ExternalReferenceList​>201714 ······​</​ExternalReferenceList​>
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201796 ······​</​DisorderDisorderAssoc​iationList>201716 ······​</​DisorderDisorderAssoc​iationList>
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251261 ··········</​TextAuto>
251262 ········</​SummaryInformation>
251263 ······​</​SummaryInformationLis​t>251071 ······​</​SummaryInformationLis​t>
251264 ····​</​Disorder>251072 ····​</​Disorder>
251265 ····​<Disorder·​id="2981">251073 ····​<Disorder·​id="2981">
251583 ······​</​ExternalReferenceList​>251391 ······​</​ExternalReferenceList​>
251584 ······​<DisorderDisorderAsso​ciationList·​count="0">251392 ······​<DisorderDisorderAsso​ciationList·​count="0">
251585 ······​</​DisorderDisorderAssoc​iationList>251393 ······​</​DisorderDisorderAssoc​iationList>
251586 ······​<SummaryInformationLi​st·​count="0">251394 ······​<SummaryInformationLi​st·​count="1">
251395 ········​<SummaryInformation·​id="129167"·​lang="fr">
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251397 ············​<TextSection·​id="168177"·​lang="fr">
251398 ··············​<TextSectionType·​id="16907">
251399 ················​<Name·​lang="fr">Définition<​/​Name>
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251401 ··············​<Contents>Maladie·​métabolique·​rare·​et·​progressive·​du·​foie·​due·​à·​une·​carence·​ou·​une·​absence·​complète·​de·​lipase·​acide·​lysosomale,​·​caractérisée·​par·​une·​dyslipidémie·​et·​une·​accumulation·​massive·​de·​lipides·​entraînant·​une·​hépatomégalie·​et·​un·​dysfonctionnement·​du·​foie,​·​une·​splénomégalie·​et·​une·​athérosclérose·​accélérée.​</​Contents>
251402 ············​</​TextSection>
251403 ··········​</​TextSectionList>
251404 ········​</​SummaryInformation>
251587 ······​</​SummaryInformationLis​t>251405 ······​</​SummaryInformationLis​t>
251588 ····​</​Disorder>251406 ····​</​Disorder>
251589 ····​<Disorder·​id="2983">251407 ····​<Disorder·​id="2983">
252977 ······​</​ExternalReferenceList​>252795 ······​</​ExternalReferenceList​>
252978 ······​<DisorderDisorderAsso​ciationList·​count="0">252796 ······​<DisorderDisorderAsso​ciationList·​count="0">
252979 ······​</​DisorderDisorderAssoc​iationList>252797 ······​</​DisorderDisorderAssoc​iationList>
252980 ······​<SummaryInformationLi​st·​count="1">252798 ······​<SummaryInformationLi​st·​count="0">
252981 ········<SummaryInformation·id="-​1"·lang="fr">
252982 ··········<TextSectionList·count="0">
252983 ··········</​TextSectionList>
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252985 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
252986 ··········</​TextAuto>
252987 ········</​SummaryInformation>
252988 ······​</​SummaryInformationLis​t>252799 ······​</​SummaryInformationLis​t>
252989 ····​</​Disorder>252800 ····​</​Disorder>
252990 ····​<Disorder·​id="20346">252801 ····​<Disorder·​id="20346">
253481 ······​</​ExternalReferenceList​>253292 ······​</​ExternalReferenceList​>
253482 ······​<DisorderDisorderAsso​ciationList·​count="0">253293 ······​<DisorderDisorderAsso​ciationList·​count="0">
253483 ······​</​DisorderDisorderAssoc​iationList>253294 ······​</​DisorderDisorderAssoc​iationList>
253484 ······​<SummaryInformationLi​st·​count="0">253295 ······​<SummaryInformationLi​st·​count="1">
253296 ········​<SummaryInformation·​id="129211"·​lang="fr">
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253298 ············​<TextSection·​id="168241"·​lang="fr">
253299 ··············​<TextSectionType·​id="16907">
253300 ················​<Name·​lang="fr">Définition<​/​Name>
253301 ··············​</​TextSectionType>
253302 ··············​<Contents>Maladie·​hématologique·​rare·​caractérisée·​par·​le·​transfert·​à·​travers·​la·​barrière·​placentaire·​d'allo-​anticorps·​maternels,​·​dirigés·​contre·​les·​antigènes·​des·​globules·​rouges·​de·​la·​famille·​de·​Kell·​à·​un·​foetus·​positif·​pour·​cet·​antigène,​·​provoquant·​une·​suppression·​de·​l'érythropoïèse·​avec·​une·​réticulocytopénie,​·​une·​anémie,​·​ainsi·​qu'une·​hémolyse·​allo-​immune.​·​Une·​anémie·​sévère·​peut·​conduire·​à·​une·​anasarque·​foetale.​·​Une·​hyperbilirubinémie·​significative·​est·​rare·​dans·​cette·​maladie.​</​Contents>
253303 ············​</​TextSection>
253304 ··········​</​TextSectionList>
253305 ········​</​SummaryInformation>
253485 ······​</​SummaryInformationLis​t>253306 ······​</​SummaryInformationLis​t>
253486 ····​</​Disorder>253307 ····​</​Disorder>
253487 ····​<Disorder·​id="2998">253308 ····​<Disorder·​id="2998">
253826 ······​</​ExternalReferenceList​>253647 ······​</​ExternalReferenceList​>
253827 ······​<DisorderDisorderAsso​ciationList·​count="0">253648 ······​<DisorderDisorderAsso​ciationList·​count="0">
253828 ······​</​DisorderDisorderAssoc​iationList>253649 ······​</​DisorderDisorderAssoc​iationList>
253829 ······​<SummaryInformationLi​st·​count="1">253650 ······​<SummaryInformationLi​st·​count="0">
253830 ········<SummaryInformation·id="-​1"·lang="fr">
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253834 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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253838 ····​</​Disorder>253652 ····​</​Disorder>
253839 ····​<Disorder·​id="2993">253653 ····​<Disorder·​id="2993">
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282082 ····​<Disorder·​id="18541">281889 ····​<Disorder·​id="18541">
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293501 ··············​<Contents>Maladie·​infectieuse·​bactérienne·​rare·​causée·​par·​&lt;​i&gt;​Francisella·​tularensis&lt;​/​i&gt;​·​et·​caractérisée·​par·​six·​présentations·​cliniques·​majeures·​selon·​le·​mode·​d'infection·​:​·​ulcéroglandulaire,​·​glandulaire,​·​oropharyngée,​·​oculoglandulaire,​·​pneumonique·​ou·​typhoïde.​·​Les·​premiers·​symptômes·​de·​type·​grippal·​sont·​communs·​à·​toutes·​les·​formes·​et·​sont·​accompagnés/​suivis·​soit·​d'un·​ulcère·​cutané·​sur·​site·​d'innoculation·​avec·​une·​lymphadénopathie·​localisée,​·​d'une·​lymphadénopathie·​isolée,​·​d'une·​pharyngite·​chronique·​avec·​lymphadénopathie·​cervicale,​·​d'une·​conjonctivite·​avec·​lymphadénopathie·​localisée,​·​d'une·​atteinte·​pulmonaire,​·​d'une·​maladie·​systémique·​sévère·​avec·​des·​atteintes·​neurologiques.​</​Contents>
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293689 ····​</​Disorder>293506 ····​</​Disorder>
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312043 ····​<Disorder·​id="3441">311832 ····​<Disorder·​id="3441">
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318961 ········​<SummaryInformation·​id="129201"·​lang="fr">
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318963 ············​<TextSection·​id="168215"·​lang="fr">
318964 ··············​<TextSectionType·​id="16907">
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318967 ··············​<Contents>Malformatio​n·​capillaro-​veineuse·​rare·​caractérisée·​par·​des·​capillaires·​dilatés·​irréguliers·​et·​regroupés·​qui·​peuvent·​être·​asymptomatiques·​ou·​provoquer·​des·​troubles·​neurologiques·​variables,​·​tels·​que,​·​des·​crises·​d'épilepsie,​·​des·​céphalées·​non·​spécifiques,​·​des·​déficits·​neurologiques·​focaux·​progressifs·​ou·​transitoires·​et/​ou·​des·​hémorragies·​cérébrales.​</​Contents>
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319173 ····​</​Disorder>318972 ····​</​Disorder>
319174 ····​<Disorder·​id="3382">318973 ····​<Disorder·​id="3382">
322012 ······​<DisorderGroup·​id="36547">321811 ······​<DisorderGroup·​id="36547">
322013 ········​<Name·​lang="fr">Pathologie<​/​Name>321812 ········​<Name·​lang="fr">Pathologie<​/​Name>
322014 ······​</​DisorderGroup>321813 ······​</​DisorderGroup>
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321854 ··········​<DisorderMappingICDRe​lation·​id="21583">
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324057 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
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324059 ··········​</​DisorderDisorderAssoc​iationType>
324060 ········​</​DisorderDisorderAssoc​iation>
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324233 ····​<Disorder·​id="3739">324072 ····​<Disorder·​id="3739">
339332 ······​</​ExternalReferenceList​>339171 ······​</​ExternalReferenceList​>
339333 ······​<DisorderDisorderAsso​ciationList·​count="0">339172 ······​<DisorderDisorderAsso​ciationList·​count="0">
339334 ······​</​DisorderDisorderAssoc​iationList>339173 ······​</​DisorderDisorderAssoc​iationList>
339335 ······​<SummaryInformationLi​st·​count="1">339174 ······​<SummaryInformationLi​st·​count="0">
339336 ········<SummaryInformation·id="-​1"·lang="fr">
339337 ··········<TextSectionList·count="0">
339338 ··········</​TextSectionList>
339339 ··········<TextAuto>
339340 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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339345 ····​<Disorder·​id="19297">339177 ····​<Disorder·​id="19297">
339377 ······​</​ExternalReferenceList​>339209 ······​</​ExternalReferenceList​>
339378 ······​<DisorderDisorderAsso​ciationList·​count="0">339210 ······​<DisorderDisorderAsso​ciationList·​count="0">
339379 ······​</​DisorderDisorderAssoc​iationList>339211 ······​</​DisorderDisorderAssoc​iationList>
339380 ······​<SummaryInformationLi​st·​count="1">339212 ······​<SummaryInformationLi​st·​count="0">
339381 ········<SummaryInformation·id="-​1"·lang="fr">
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339383 ··········</​TextSectionList>
339384 ··········<TextAuto>
339385 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
339386 ··········</​TextAuto>
339387 ········</​SummaryInformation>
339388 ······​</​SummaryInformationLis​t>339213 ······​</​SummaryInformationLis​t>
339389 ····​</​Disorder>339214 ····​</​Disorder>
339390 ····​<Disorder·​id="19298">339215 ····​<Disorder·​id="19298">
339776 ······​</​ExternalReferenceList​>339601 ······​</​ExternalReferenceList​>
339777 ······​<DisorderDisorderAsso​ciationList·​count="0">339602 ······​<DisorderDisorderAsso​ciationList·​count="0">
339778 ······​</​DisorderDisorderAssoc​iationList>339603 ······​</​DisorderDisorderAssoc​iationList>
339779 ······​<SummaryInformationLi​st·​count="0">339604 ······​<SummaryInformationLi​st·​count="1">
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339608 ··············​<TextSectionType·​id="16907">
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339613 ··········​</​TextSectionList>
339614 ········​</​SummaryInformation>
339780 ······​</​SummaryInformationLis​t>339615 ······​</​SummaryInformationLis​t>
339781 ····​</​Disorder>339616 ····​</​Disorder>
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409032 ··············​<Contents>Syndrome·​génétique·​rare·​d'anomalies·​congénitales·​multiples·​caractérisé·​par·​une·​petite·​taille,​·​une·​brachydactylie·​des·​mains·​et·​une·​hypoplasie·​des·​phalanges·​distales,​·​un·​retard·​de·​développement·​global,​·​une·​déficience·​intellectuelle·​et,​·​de·​façon·​plus·​inconstante,​·​des·​crises·​d'épilepsie,​·​l'obésité·​et·​une·​dysmorphie·​cranio-​faciale·​comprenant·​une·​microcéphalie,​·​un·​front·​haut,​·​un·​visage·​plat,​·​un·​hypertélorisme,​·​des·​yeux·​enfoncés·​dans·​les·​orbites,​·​un·​pont·​nasal·​plat,​·​des·​narines·​larges,​·​un·​long·​philtrum,​·​un·​vermillon·​fin·​et·​un·​cou·​court.​</​Contents>
409033 ············​</​TextSection>
409034 ··········​</​TextSectionList>
409035 ········​</​SummaryInformation>
409219 ······​</​SummaryInformationLis​t>409036 ······​</​SummaryInformationLis​t>
409220 ····​</​Disorder>409037 ····​</​Disorder>
409221 ····​<Disorder·​id="24015">409038 ····​<Disorder·​id="24015">
409295 ··········​</​DisorderDisorderAssoc​iationType>409112 ··········​</​DisorderDisorderAssoc​iationType>
409296 ········​</​DisorderDisorderAssoc​iation>409113 ········​</​DisorderDisorderAssoc​iation>
409297 ······​</​DisorderDisorderAssoc​iationList>409114 ······​</​DisorderDisorderAssoc​iationList>
409298 ······​<SummaryInformationLi​st·​count="1">409115 ······​<SummaryInformationLi​st·​count="0">
409299 ········<SummaryInformation·id="-​1"·lang="fr">
409300 ··········<TextSectionList·count="0">
409301 ··········</​TextSectionList>
409302 ··········<TextAuto>
409303 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
409304 ··········</​TextAuto>
409305 ········</​SummaryInformation>
409306 ······​</​SummaryInformationLis​t>409116 ······​</​SummaryInformationLis​t>
409307 ····​</​Disorder>409117 ····​</​Disorder>
409308 ····​<Disorder·​id="24019">409118 ····​<Disorder·​id="24019">
409799 ······​</​ExternalReferenceList​>409609 ······​</​ExternalReferenceList​>
409800 ······​<DisorderDisorderAsso​ciationList·​count="0">409610 ······​<DisorderDisorderAsso​ciationList·​count="0">
409801 ······​</​DisorderDisorderAssoc​iationList>409611 ······​</​DisorderDisorderAssoc​iationList>
409802 ······​<SummaryInformationLi​st·​count="0">409612 ······​<SummaryInformationLi​st·​count="1">
409613 ········​<SummaryInformation·​id="129260"·​lang="fr">
409614 ··········​<TextSectionList·​count="1">
409615 ············​<TextSection·​id="168390"·​lang="fr">
409616 ··············​<TextSectionType·​id="16907">
409617 ················​<Name·​lang="fr">Définition<​/​Name>
409618 ··············​</​TextSectionType>
409619 ··············​<Contents>Dystonie·​génétique·​rare·​caractérisée·​par·​une·​dystonie·​focale·​ou·​segmentaire·​isolée·​affectant·​le·​visage,​·​le·​cou,​·​les·​membres·​supérieurs·​(dystonie·​focale·​de·​la·​main)​·​le·​larynx·​ou·​le·​tronc,​·​et·​se·​manifestant·​de·​l'enfance·​au·​début·​de·​l'âge·​adulte.​·​La·​dystonie·​peut·​être·​de·​forme·​tremblante,​·​donnant·​lieu·​à·​un·​tremblement·​de·​la·​tête·​ou·​des·​mains.​·​Le·​mode·​de·​transmission·​est·​autosomique·​récessif.​</​Contents>
409620 ············​</​TextSection>
409621 ··········​</​TextSectionList>
409622 ········​</​SummaryInformation>
409803 ······​</​SummaryInformationLis​t>409623 ······​</​SummaryInformationLis​t>
409804 ····​</​Disorder>409624 ····​</​Disorder>
409805 ····​<Disorder·​id="24024">409625 ····​<Disorder·​id="24024">
409871 ······​</​ExternalReferenceList​>409691 ······​</​ExternalReferenceList​>
409872 ······​<DisorderDisorderAsso​ciationList·​count="0">409692 ······​<DisorderDisorderAsso​ciationList·​count="0">
409873 ······​</​DisorderDisorderAssoc​iationList>409693 ······​</​DisorderDisorderAssoc​iationList>
409874 ······​<SummaryInformationLi​st·​count="1">409694 ······​<SummaryInformationLi​st·​count="0">
409875 ········<SummaryInformation·id="-​1"·lang="fr">
409876 ··········<TextSectionList·count="0">
409877 ··········</​TextSectionList>
409878 ··········<TextAuto>
409879 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
409880 ··········</​TextAuto>
409881 ········</​SummaryInformation>
409882 ······​</​SummaryInformationLis​t>409695 ······​</​SummaryInformationLis​t>
409883 ····​</​Disorder>409696 ····​</​Disorder>
409884 ····​<Disorder·​id="24028">409697 ····​<Disorder·​id="24028">
410376 ······​</​ExternalReferenceList​>410189 ······​</​ExternalReferenceList​>
410377 ······​<DisorderDisorderAsso​ciationList·​count="0">410190 ······​<DisorderDisorderAsso​ciationList·​count="0">
410378 ······​</​DisorderDisorderAssoc​iationList>410191 ······​</​DisorderDisorderAssoc​iationList>
410379 ······​<SummaryInformationLi​st·​count="0">410192 ······​<SummaryInformationLi​st·​count="1">
410193 ········​<SummaryInformation·​id="129263"·​lang="fr">
410194 ··········​<TextSectionList·​count="1">
410195 ············​<TextSection·​id="168393"·​lang="fr">
410196 ··············​<TextSectionType·​id="16907">
410197 ················​<Name·​lang="fr">Définition<​/​Name>
410198 ··············​</​TextSectionType>
410199 ··············​<Contents>Anomalies·​congénitales·​multiples/​syndrome·​dysmorphique·​rare·​avec·​déficience·​intellectuelle·​caractérisé·​par·​un·​retard·​global·​du·​développement,​·​une·​microcéphalie·​postnatale,​·​une·​déficience·​intellectuelle,​·​une·​ataxie,​·​une·​perte·​auditive·​neurosensorielle·​et·​une·​insuffisance·​pancréatique·​exocrine.​·​L'hypotonie,​·​le·​retard·​de·​croissance,​·​la·​neuropathie·​démyélinisante·​périphérique,​·​la·​dysmorphie·​faciale·​et·​d'autres·​anomalies·​endocriniennes·​font·​partie·​des·​signes·​cliniques·​plus·​variables.​·​L'IRM·​peut·​révéler·​une·​atrophie·​cérébelleuse·​progressive·​chez·​certains·​patients.​</​Contents>
410200 ············​</​TextSection>
410201 ··········​</​TextSectionList>
410202 ········​</​SummaryInformation>
410380 ······​</​SummaryInformationLis​t>410203 ······​</​SummaryInformationLis​t>
410381 ····​</​Disorder>410204 ····​</​Disorder>
410382 ····​<Disorder·​id="23677">410205 ····​<Disorder·​id="23677">
410700 ······​</​ExternalReferenceList​>410523 ······​</​ExternalReferenceList​>
410701 ······​<DisorderDisorderAsso​ciationList·​count="0">410524 ······​<DisorderDisorderAsso​ciationList·​count="0">
410702 ······​</​DisorderDisorderAssoc​iationList>410525 ······​</​DisorderDisorderAssoc​iationList>
410703 ······​<SummaryInformationLi​st·​count="0">410526 ······​<SummaryInformationLi​st·​count="1">
410527 ········​<SummaryInformation·​id="129212"·​lang="fr">
410528 ··········​<TextSectionList·​count="1">
410529 ············​<TextSection·​id="168242"·​lang="fr">
410530 ··············​<TextSectionType·​id="16907">
410531 ················​<Name·​lang="fr">Définition<​/​Name>
410532 ··············​</​TextSectionType>
410533 ··············​<Contents>Maladie·​humaine·​rare·​à·​prion·​caractérisée·​par·​l'accumulation·​d'une·​protéine·​prion·​anormale·​nettement·​moins·​résistante·​aux·​protéases·​que·​dans·​les·​autres·​maladies·​à·​prion,​·​en·​fonction·​du·​génotype·​au·​niveau·​du·​codon·​129·​du·​gène·​de·​la·​protéine·​prion.​·​Aucune·​mutation·​n'est·​retrouvée·​dans·​la·​séquence·​codante·​du·​gène.​·​L'analyse·​neuropathologique·​montre·​un·​changement·​spongiforme·​et·​un·​dépôt·​de·​protéine·​prion·​avec·​des·​microplaques·​dans·​le·​cervelet.​·​Les·​patients·​manifestent,​·​entre·​autres,​·​un·​déclin·​cognitif·​et·​moteur·​lentement·​progressif,​·​des·​signes·​cliniques·​psychiatriques,​·​une·​ataxie,​·​une·​myoclonie·​ou·​des·​tremblements.​·​La·​maladie·​est·​létale·​et·​transmissible·​à·​d'autres·​individus.​</​Contents>
410534 ············​</​TextSection>
410535 ··········​</​TextSectionList>
410536 ········​</​SummaryInformation>
410704 ······​</​SummaryInformationLis​t>410537 ······​</​SummaryInformationLis​t>
410705 ····​</​Disorder>410538 ····​</​Disorder>
410706 ····​<Disorder·​id="23658">410539 ····​<Disorder·​id="23658">
411243 ······​</​ExternalReferenceList​>411076 ······​</​ExternalReferenceList​>
411244 ······​<DisorderDisorderAsso​ciationList·​count="0">411077 ······​<DisorderDisorderAsso​ciationList·​count="0">
411245 ······​</​DisorderDisorderAssoc​iationList>411078 ······​</​DisorderDisorderAssoc​iationList>
411246 ······​<SummaryInformationLi​st·​count="0">411079 ······​<SummaryInformationLi​st·​count="1">
411080 ········​<SummaryInformation·​id="129202"·​lang="fr">
411081 ··········​<TextSectionList·​count="1">
411082 ············​<TextSection·​id="168225"·​lang="fr">
411083 ··············​<TextSectionType·​id="16907">
411084 ················​<Name·​lang="fr">Définition<​/​Name>
411085 ··············​</​TextSectionType>
411086 ··············​<Contents>Maladie·​bulleuse·​auto-​immune·​sous-​épidermique·​rare·​et·​acquise,​·​caractérisée·​par·​des·​lésions·​cutanées·​polymorphes·​(vésicules,​·​lésions·​urticariennes·​ou·​cicatrices/​milia)​·​associées·​à·​un·​dépôt·​d'imunoglubuline·​G·​au·​niveau·​de·​la·​membrane·​basale.​·​Les·​lésions·​sont·​souvent·​localisées·​sur·​les·​extrémités,​·​le·​tronc,​·​les·​régions·​palmoplantaires·​et·​de·​la·​tête,​·​ainsi·​que·​sur·​les·​muqueuses.​</​Contents>
411087 ············​</​TextSection>
411088 ··········​</​TextSectionList>
411089 ········​</​SummaryInformation>
411247 ······​</​SummaryInformationLis​t>411090 ······​</​SummaryInformationLis​t>
411248 ····​</​Disorder>411091 ····​</​Disorder>
411249 ····​<Disorder·​id="23654">411092 ····​<Disorder·​id="23654">
411995 ······​</​ExternalReferenceList​>411838 ······​</​ExternalReferenceList​>
411996 ······​<DisorderDisorderAsso​ciationList·​count="0">411839 ······​<DisorderDisorderAsso​ciationList·​count="0">
411997 ······​</​DisorderDisorderAssoc​iationList>411840 ······​</​DisorderDisorderAssoc​iationList>
411998 ······​<SummaryInformationLi​st·​count="0">411841 ······​<SummaryInformationLi​st·​count="1">
411842 ········​<SummaryInformation·​id="129219"·​lang="fr">
411843 ··········​<TextSectionList·​count="1">
411844 ············​<TextSection·​id="168249"·​lang="fr">
411845 ··············​<TextSectionType·​id="16907">
411846 ················​<Name·​lang="fr">Définition<​/​Name>
411847 ··············​</​TextSectionType>
411848 ··············​<Contents>Mycose·​rare·​causée·​par·​des·​espèces·​de·​&lt;​i&gt;​Scedosporium&lt;​/​i&gt;​·​et·​caractérisée·​par·​des·​tableaux·​cliniques·​disparates·​incluant·​une·​pneumonie,​·​une·​infection·​de·​la·​peau·​et·​des·​tissus·​mous,​·​un·​mycétome·​et·​une·​infection·​disséminée.​·​Une·​infection·​du·​système·​nerveux·​central·​a·​également·​été·​rapportée.​·​Les·​infections·​par·​cette·​moisissure·​ubiquitaire·​peuvent·​survenir·​dans·​divers·​contextes·​tels·​que·​la·​transplantation·​d'organes·​solides,​·​la·​chimiothérapie,​·​les·​maladies·​pulmonaires·​chroniques,​·​mais·​également·​chez·​des·​hôtes·​immunocompétents·​ayant·​vécu·​un·​épisode·​de·​presque·​noyade.​</​Contents>
411849 ············​</​TextSection>
411850 ··········​</​TextSectionList>
411851 ········​</​SummaryInformation>
411999 ······​</​SummaryInformationLis​t>411852 ······​</​SummaryInformationLis​t>
412000 ····​</​Disorder>411853 ····​</​Disorder>
412001 ····​<Disorder·​id="23615">411854 ····​<Disorder·​id="23615">
413496 ······​</​ExternalReferenceList​>413349 ······​</​ExternalReferenceList​>
413497 ······​<DisorderDisorderAsso​ciationList·​count="0">413350 ······​<DisorderDisorderAsso​ciationList·​count="0">
413498 ······​</​DisorderDisorderAssoc​iationList>413351 ······​</​DisorderDisorderAssoc​iationList>
413499 ······​<SummaryInformationLi​st·​count="1">413352 ······​<SummaryInformationLi​st·​count="0">
413500 ········<SummaryInformation·id="-​1"·lang="fr">
413501 ··········<TextSectionList·count="0">
413502 ··········</​TextSectionList>
413503 ··········<TextAuto>
413504 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
413505 ··········</​TextAuto>
413506 ········</​SummaryInformation>
413507 ······​</​SummaryInformationLis​t>413353 ······​</​SummaryInformationLis​t>
413508 ····​</​Disorder>413354 ····​</​Disorder>
413509 ····​<Disorder·​id="23763">413355 ····​<Disorder·​id="23763">
415707 ······​</​ExternalReferenceList​>415553 ······​</​ExternalReferenceList​>
415708 ······​<DisorderDisorderAsso​ciationList·​count="0">415554 ······​<DisorderDisorderAsso​ciationList·​count="0">
415709 ······​</​DisorderDisorderAssoc​iationList>415555 ······​</​DisorderDisorderAssoc​iationList>
415710 ······​<SummaryInformationLi​st·​count="0">415556 ······​<SummaryInformationLi​st·​count="1">
415557 ········​<SummaryInformation·​id="129253"·​lang="fr">
415558 ··········​<TextSectionList·​count="1">
415559 ············​<TextSection·​id="168383"·​lang="fr">
415560 ··············​<TextSectionType·​id="16907">
415561 ················​<Name·​lang="fr">Définition<​/​Name>
415562 ··············​</​TextSectionType>
415563 ··············​<Contents>Anomalie·​rare·​de·​la·​phosphorylation·​oxydative·​mitochondriale·​due·​à·​des·​anomalies·​de·​l'ADN·​nucléaire,​·​caractérisée·​par·​l'apparition·​d'une·​faiblesse·​lentement·​progressive·​des·​extrémités·​proximales·​des·​membres·​inférieurs·​et·​d'une·​intolérance·​à·​l'effort·​au·​cours·​de·​la·​première·​décennie·​de·​la·​vie,​·​suivie·​d'une·​faiblesse·​des·​muscles·​fléchisseurs·​du·​cou,​·​ceux·​des·​épaules·​et·​les·​muscles·​distaux·​des·​jambes.​·​L'atteinte·​se·​propage·​aux·​muscles·​faciaux·​plus·​tard·​au·​cours·​de·​l'évolution·​de·​la·​maladie.​·​Les·​autres·​signes·​cliniques·​sont·​une·​insuffisance·​respiratoire·​restrictive·​et·​une·​petite·​taille.​·​Les·​analyses·​biologiques·​révèlent·​une·​acidose·​lactique·​et·​une·​augmentation·​du·​taux·​sérique·​de·​créatine·​kinase.​</​Contents>
415564 ············​</​TextSection>
415565 ··········​</​TextSectionList>
415566 ········​</​SummaryInformation>
415711 ······​</​SummaryInformationLis​t>415567 ······​</​SummaryInformationLis​t>
415712 ····​</​Disorder>415568 ····​</​Disorder>
415713 ····​<Disorder·​id="7021">415569 ····​<Disorder·​id="7021">
417418 ······​</​ExternalReferenceList​>417274 ······​</​ExternalReferenceList​>
417419 ······​<DisorderDisorderAsso​ciationList·​count="0">417275 ······​<DisorderDisorderAsso​ciationList·​count="0">
417420 ······​</​DisorderDisorderAssoc​iationList>417276 ······​</​DisorderDisorderAssoc​iationList>
417421 ······​<SummaryInformationLi​st·​count="1">417277 ······​<SummaryInformationLi​st·​count="0">
417422 ········<SummaryInformation·id="-​1"·lang="fr">
417423 ··········<TextSectionList·count="0">
417424 ··········</​TextSectionList>
417425 ··········<TextAuto>
417426 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
417427 ··········</​TextAuto>
417428 ········</​SummaryInformation>
417429 ······​</​SummaryInformationLis​t>417278 ······​</​SummaryInformationLis​t>
417430 ····​</​Disorder>417279 ····​</​Disorder>
417431 ····​<Disorder·​id="24154">417280 ····​<Disorder·​id="24154">
417496 ······​</​ExternalReferenceList​>417345 ······​</​ExternalReferenceList​>
417497 ······​<DisorderDisorderAsso​ciationList·​count="0">417346 ······​<DisorderDisorderAsso​ciationList·​count="0">
417498 ······​</​DisorderDisorderAssoc​iationList>417347 ······​</​DisorderDisorderAssoc​iationList>
417499 ······​<SummaryInformationLi​st·​count="1">417348 ······​<SummaryInformationLi​st·​count="0">
417500 ········<SummaryInformation·id="-​1"·lang="fr">
417501 ··········<TextSectionList·count="0">
417502 ··········</​TextSectionList>
417503 ··········<TextAuto>
417504 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
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417506 ········</​SummaryInformation>
417507 ······​</​SummaryInformationLis​t>417349 ······​</​SummaryInformationLis​t>
417508 ····​</​Disorder>417350 ····​</​Disorder>
417509 ····​<Disorder·​id="24151">417351 ····​<Disorder·​id="24151">
417951 ······​</​ExternalReferenceList​>417793 ······​</​ExternalReferenceList​>
417952 ······​<DisorderDisorderAsso​ciationList·​count="0">417794 ······​<DisorderDisorderAsso​ciationList·​count="0">
417953 ······​</​DisorderDisorderAssoc​iationList>417795 ······​</​DisorderDisorderAssoc​iationList>
417954 ······​<SummaryInformationLi​st·​count="0">417796 ······​<SummaryInformationLi​st·​count="1">
417797 ········​<SummaryInformation·​id="129270"·​lang="fr">
417798 ··········​<TextSectionList·​count="1">
417799 ············​<TextSection·​id="168400"·​lang="fr">
417800 ··············​<TextSectionType·​id="16907">
417801 ················​<Name·​lang="fr">Définition<​/​Name>
417802 ··············​</​TextSectionType>
417803 ··············​<Contents>Neuropathie​·​sensitivo-​motrice·​axonale·​héréditaire·​autosomique·​récessive·​rare·​caractérisée·​par·​des·​épisodes·​récurrents·​d'insuffisance·​hépatique·​aiguë·​d'apparition·​infantile·​(entraînant·​une·​fibrose·​hépatique·​chronique·​et·​une·​hépatosplénomégalie)​,​·​d'un·​retard·​de·​développement·​moteur,​·​d'une·​dysfonction·​cérébelleuse·​entraînant·​des·​troubles·​de·​la·​marche·​et·​des·​tremblements·​d'intention,​·​d'un·​bégaiement·​neurogène,​·​d'une·​neuropathie·​motrice·​et·​sensorielle·​avec·​une·​faiblesse·​musculaire,​·​en·​particulier·​dans·​les·​membres·​inférieurs,​·​ainsi·​qu'un·​engourdissement.​·​Une·​déficience·​intellectuelle·​légère·​a·​été·​rapportée·​chez·​certains·​patients.​·​L'IRM·​du·​cerveau·​révèle·​une·​atrophie·​non·​progressive·​du·​vermis·​cérébelleux·​et·​un·​amincissement·​du·​nerf·​optique.​</​Contents>
417804 ············​</​TextSection>
417805 ··········​</​TextSectionList>
417806 ········​</​SummaryInformation>
417955 ······​</​SummaryInformationLis​t>417807 ······​</​SummaryInformationLis​t>
417956 ····​</​Disorder>417808 ····​</​Disorder>
417957 ····​<Disorder·​id="24169">417809 ····​<Disorder·​id="24169">
422552 ······​</​ExternalReferenceList​>422404 ······​</​ExternalReferenceList​>
422553 ······​<DisorderDisorderAsso​ciationList·​count="0">422405 ······​<DisorderDisorderAsso​ciationList·​count="0">
422554 ······​</​DisorderDisorderAssoc​iationList>422406 ······​</​DisorderDisorderAssoc​iationList>
422555 ······​<SummaryInformationLi​st·​count="1">422407 ······​<SummaryInformationLi​st·​count="0">
422556 ········<SummaryInformation·id="-​1"·lang="fr">
422557 ··········<TextSectionList·count="0">
422558 ··········</​TextSectionList>
422559 ··········<TextAuto>
422560 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
422561 ··········</​TextAuto>
422562 ········</​SummaryInformation>
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422564 ····​</​Disorder>422409 ····​</​Disorder>
422565 ····​<Disorder·​id="22945">422410 ····​<Disorder·​id="22945">
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424038 ······​<DisorderDisorderAsso​ciationList·​count="0">423883 ······​<DisorderDisorderAsso​ciationList·​count="0">
424039 ······​</​DisorderDisorderAssoc​iationList>423884 ······​</​DisorderDisorderAssoc​iationList>
424040 ······​<SummaryInformationLi​st·​count="1">423885 ······​<SummaryInformationLi​st·​count="0">
424041 ········<SummaryInformation·id="-​1"·lang="fr">
424042 ··········<TextSectionList·count="0">
424043 ··········</​TextSectionList>
424044 ··········<TextAuto>
424045 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
424046 ··········</​TextAuto>
424047 ········</​SummaryInformation>
424048 ······​</​SummaryInformationLis​t>423886 ······​</​SummaryInformationLis​t>
424049 ····​</​Disorder>423887 ····​</​Disorder>
424050 ····​<Disorder·​id="23018">423888 ····​<Disorder·​id="23018">
428068 ······​<SynonymList·​count="1">427906 ······​<SynonymList·​count="1">
428069 ········​<Synonym·​lang="fr">Coagulopath​ie·​de·​l'est·​du·​Texas</​Synonym>427907 ········​<Synonym·​lang="fr">Coagulopath​ie·​de·​l'est·​du·​Texas</​Synonym>
428070 ······​</​SynonymList>427908 ······​</​SynonymList>
428071 ······​<DisorderType·​id="21394">427909 ······​<DisorderType·​id="21443">
428072 ········​<Name·​lang="fr">Maladie</​Name>427910 ········​<Name·​lang="fr">Sous-​type·étiologique</​Name>
428073 ······​</​DisorderType>427911 ······​</​DisorderType>
428074 ······​<DisorderGroup·​id="36547">427912 ······​<DisorderGroup·​id="36554">
428075 ········​<Name·​lang="fr">Pathologie<​/​Name>427913 ········​<Name·​lang="fr">Sous-​type·d'une·pathologie</​Name>
428076 ······​</​DisorderGroup>427914 ······​</​DisorderGroup>
428077 ······​<ExternalReferenceLis​t·​count="3">427915 ······​<ExternalReferenceLis​t·​count="3">
428078 ········​<ExternalReference·​id="86186">427916 ········​<ExternalReference·​id="86186">
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428531 ······​<DisorderDisorderAsso​ciationList·​count="0">428369 ······​<DisorderDisorderAsso​ciationList·​count="0">
428532 ······​</​DisorderDisorderAssoc​iationList>428370 ······​</​DisorderDisorderAssoc​iationList>
428533 ······​<SummaryInformationLi​st·​count="1">428371 ······​<SummaryInformationLi​st·​count="0">
428534 ········<SummaryInformation·id="-​1"·lang="fr">
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428536 ··········</​TextSectionList>
428537 ··········<TextAuto>
428538 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
428539 ··········</​TextAuto>
428540 ········</​SummaryInformation>
428541 ······​</​SummaryInformationLis​t>428372 ······​</​SummaryInformationLis​t>
428542 ····​</​Disorder>428373 ····​</​Disorder>
428543 ····​<Disorder·​id="22715">428374 ····​<Disorder·​id="22715">
429644 ······​</​ExternalReferenceList​>429475 ······​</​ExternalReferenceList​>
429645 ······​<DisorderDisorderAsso​ciationList·​count="0">429476 ······​<DisorderDisorderAsso​ciationList·​count="0">
429646 ······​</​DisorderDisorderAssoc​iationList>429477 ······​</​DisorderDisorderAssoc​iationList>
429647 ······​<SummaryInformationLi​st·​count="0">429478 ······​<SummaryInformationLi​st·​count="1">
429479 ········​<SummaryInformation·​id="129252"·​lang="fr">
429480 ··········​<TextSectionList·​count="1">
429481 ············​<TextSection·​id="168382"·​lang="fr">
429482 ··············​<TextSectionType·​id="16907">
429483 ················​<Name·​lang="fr">Définition<​/​Name>
429484 ··············​</​TextSectionType>
429485 ··············​<Contents>Anomalie·​rare·​du·​développement·​génétique·​au·​cours·​de·​l'embryogenèse,​·​caractérisée·​par·​des·​signes·​classiques·​du·​syndrome·​de·​Joubert·​(malformations·​congénitales·​du·​mésencéphale·​et·​du·​rhombencéphale·​à·​l'origine·​d'une·​hypotonie,​·​des·​mouvements·​respiratoires·​et·​oculaires·​anormaux,​·​une·​ataxie·​et·​des·​troubles·​cognitifs)​·​associée·​à·​des·​malformations·​squelettiques·​caractéristiques·​du·​syndrome·​de·​Jeune·​aussi·​appelé·​dysplasie·​thoracique·​asphyxiante·​(des·​côtes·​courtes,​·​un·​thorax·​long·​et·​étroit·​entraînant·​une·​insuffisance·​respiratoire,​·​des·​membres·​courts,​·​une·​petite·​taille·​et·​une·​polydactylie)​.​·​Les·​autres·​signes·​cliniques·​variables·​sont·​des·​reins·​kystiques,​·​une·​fibrose·​hépatique·​et·​une·​dystrophie·​rétinienne.​</​Contents>
429486 ············​</​TextSection>
429487 ··········​</​TextSectionList>
429488 ········​</​SummaryInformation>
429648 ······​</​SummaryInformationLis​t>429489 ······​</​SummaryInformationLis​t>
429649 ····​</​Disorder>429490 ····​</​Disorder>
429650 ····​<Disorder·​id="22692">429491 ····​<Disorder·​id="22692">
432776 ······​</​ExternalReferenceList​>432617 ······​</​ExternalReferenceList​>
432777 ······​<DisorderDisorderAsso​ciationList·​count="0">432618 ······​<DisorderDisorderAsso​ciationList·​count="0">
432778 ······​</​DisorderDisorderAssoc​iationList>432619 ······​</​DisorderDisorderAssoc​iationList>
432779 ······​<SummaryInformationLi​st·​count="1">432620 ······​<SummaryInformationLi​st·​count="0">
432780 ········<SummaryInformation·id="-​1"·lang="fr">
432781 ··········<TextSectionList·count="0">
432782 ··········</​TextSectionList>
432783 ··········<TextAuto>
432784 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
432785 ··········</​TextAuto>
432786 ········</​SummaryInformation>
432787 ······​</​SummaryInformationLis​t>432621 ······​</​SummaryInformationLis​t>
432788 ····​</​Disorder>432622 ····​</​Disorder>
432789 ····​<Disorder·​id="22741">432623 ····​<Disorder·​id="22741">
432858 ······​</​ExternalReferenceList​>432692 ······​</​ExternalReferenceList​>
432859 ······​<DisorderDisorderAsso​ciationList·​count="0">432693 ······​<DisorderDisorderAsso​ciationList·​count="0">
432860 ······​</​DisorderDisorderAssoc​iationList>432694 ······​</​DisorderDisorderAssoc​iationList>
432861 ······​<SummaryInformationLi​st·​count="1">432695 ······​<SummaryInformationLi​st·​count="0">
432862 ········<SummaryInformation·id="-​1"·lang="fr">
432863 ··········<TextSectionList·count="0">
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432865 ··········<TextAuto>
432866 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
432867 ··········</​TextAuto>
432868 ········</​SummaryInformation>
432869 ······​</​SummaryInformationLis​t>432696 ······​</​SummaryInformationLis​t>
432870 ····​</​Disorder>432697 ····​</​Disorder>
432871 ····​<Disorder·​id="22743">432698 ····​<Disorder·​id="22743">
437496 ······​</​ExternalReferenceList​>437323 ······​</​ExternalReferenceList​>
437497 ······​<DisorderDisorderAsso​ciationList·​count="0">437324 ······​<DisorderDisorderAsso​ciationList·​count="0">
437498 ······​</​DisorderDisorderAssoc​iationList>437325 ······​</​DisorderDisorderAssoc​iationList>
437499 ······​<SummaryInformationLi​st·​count="0">437326 ······​<SummaryInformationLi​st·​count="1">
437327 ········​<SummaryInformation·​id="129206"·​lang="fr">
437328 ··········​<TextSectionList·​count="1">
437329 ············​<TextSection·​id="168236"·​lang="fr">
437330 ··············​<TextSectionType·​id="16907">
437331 ················​<Name·​lang="fr">Définition<​/​Name>
437332 ··············​</​TextSectionType>
437333 ··············​<Contents>Maladie·​infectieuse·​rare·​caractérisée·​par·​une·​infection·​douloureuse·​et·​rapidement·​progressive·​des·​structures·​profondes·​des·​tissus·​mous.​·​Les·​infections·​peuvent·​être·​mono-​·​ou·​polymicrobiennes·​et·​impliquer,​·​entre·​autres,​·​des·​cocci·​à·​Gram·​positif,​·​des·​bacilles·​entériques·​à·​Gram·​négatif·​et·​des·​bacilles·​anaérobies.​·​Dans·​de·​rares·​cas,​·​des·​infections·​fongiques·​ont·​également·​été·​rapportées.​·​Les·​signes·​cliniques·​observés·​à·​l'examen·​physique·​sont·​souvent·​subtils·​et·​peuvent·​inclure·​un·​érythème,​·​des·​bulles,​·​une·​induration·​des·​tissus·​sous-​cutanés·​et·​une·​sensibilité·​à·​la·​palpation.​</​Contents>
437334 ············​</​TextSection>
437335 ··········​</​TextSectionList>
437336 ········​</​SummaryInformation>
437500 ······​</​SummaryInformationLis​t>437337 ······​</​SummaryInformationLis​t>
437501 ····​</​Disorder>437338 ····​</​Disorder>
437502 ····​<Disorder·​id="23412">437339 ····​<Disorder·​id="23412">
437975 ··········​</​DisorderDisorderAssoc​iationType>437812 ··········​</​DisorderDisorderAssoc​iationType>
437976 ········​</​DisorderDisorderAssoc​iation>437813 ········​</​DisorderDisorderAssoc​iation>
437977 ······​</​DisorderDisorderAssoc​iationList>437814 ······​</​DisorderDisorderAssoc​iationList>
437978 ······​<SummaryInformationLi​st·​count="1">437815 ······​<SummaryInformationLi​st·​count="0">
437979 ········<SummaryInformation·id="-​1"·lang="fr">
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437983 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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437987 ····​</​Disorder>437817 ····​</​Disorder>
437988 ····​<Disorder·​id="23422">437818 ····​<Disorder·​id="23422">
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441374 ······​<DisorderDisorderAsso​ciationList·​count="0">441204 ······​<DisorderDisorderAsso​ciationList·​count="0">
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441376 ······​<SummaryInformationLi​st·​count="1">441206 ······​<SummaryInformationLi​st·​count="0">
441377 ········<SummaryInformation·id="-​1"·lang="fr">
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441380 ··········<TextAuto>
441381 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
441382 ··········</​TextAuto>
441383 ········</​SummaryInformation>
441384 ······​</​SummaryInformationLis​t>441207 ······​</​SummaryInformationLis​t>
441385 ····​</​Disorder>441208 ····​</​Disorder>
441386 ····​<Disorder·​id="23470">441209 ····​<Disorder·​id="23470">
443815 ······​</​ExternalReferenceList​>443638 ······​</​ExternalReferenceList​>
443816 ······​<DisorderDisorderAsso​ciationList·​count="0">443639 ······​<DisorderDisorderAsso​ciationList·​count="0">
443817 ······​</​DisorderDisorderAssoc​iationList>443640 ······​</​DisorderDisorderAssoc​iationList>
443818 ······​<SummaryInformationLi​st·​count="0">443641 ······​<SummaryInformationLi​st·​count="1">
443642 ········​<SummaryInformation·​id="129268"·​lang="fr">
443643 ··········​<TextSectionList·​count="1">
443644 ············​<TextSection·​id="168398"·​lang="fr">
443645 ··············​<TextSectionType·​id="16907">
443646 ················​<Name·​lang="fr">Définition<​/​Name>
443647 ··············​</​TextSectionType>
443648 ··············​<Contents>Paraplégie·​spastique·​héréditaire·​rare,​·​essentiellement·​de·​forme·​pure,​·​caractérisée·​par·​une·​apparition·​à·​l'âge·​juvénile·​ou·​adulte·​d'une·​paraparésie·​spastique·​lentement·​progressive,​·​des·​troubles·​de·​la·​marche·​et·​d'une·​augmentation·​des·​réflexes·​tendineux.​·​Les·​autres·​signes·​cliniques·​variables·​incluent·​le·​pes·​cavus,​·​la·​dysarthrie,​·​les·​troubles·​sensoriels·​et·​les·​troubles·​urinaires.​·​La·​cognition·​est·​normale.​</​Contents>
443649 ············​</​TextSection>
443650 ··········​</​TextSectionList>
443651 ········​</​SummaryInformation>
443819 ······​</​SummaryInformationLis​t>443652 ······​</​SummaryInformationLis​t>
443820 ····​</​Disorder>443653 ····​</​Disorder>
443821 ····​<Disorder·​id="23536">443654 ····​<Disorder·​id="23536">
446600 ······​</​ExternalReferenceList​>446433 ······​</​ExternalReferenceList​>
446601 ······​<DisorderDisorderAsso​ciationList·​count="0">446434 ······​<DisorderDisorderAsso​ciationList·​count="0">
446602 ······​</​DisorderDisorderAssoc​iationList>446435 ······​</​DisorderDisorderAssoc​iationList>
446603 ······​<SummaryInformationLi​st·​count="1">446436 ······​<SummaryInformationLi​st·​count="0">
446604 ········<SummaryInformation·id="-​1"·lang="fr">
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446607 ··········<TextAuto>
446608 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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446613 ····​<Disorder·​id="23164">446439 ····​<Disorder·​id="23164">
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447949 ····​</​Disorder>447768 ····​</​Disorder>
447950 ····​<Disorder·​id="23191">447769 ····​<Disorder·​id="23191">
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448287 ········​</​DisorderDisorderAssoc​iation>448106 ········​</​DisorderDisorderAssoc​iation>
448288 ······​</​DisorderDisorderAssoc​iationList>448107 ······​</​DisorderDisorderAssoc​iationList>
448289 ······​<SummaryInformationLi​st·​count="1">448108 ······​<SummaryInformationLi​st·​count="0">
448290 ········<SummaryInformation·id="-​1"·lang="fr">
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448294 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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448299 ····​<Disorder·​id="23178">448111 ····​<Disorder·​id="23178">
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449965 ········</​SummaryInformation>
449966 ······​</​SummaryInformationLis​t>449743 ······​</​SummaryInformationLis​t>
449967 ····​</​Disorder>449744 ····​</​Disorder>
449968 ····​<Disorder·​id="23243">449745 ····​<Disorder·​id="23243">
455903 ······​</​ExternalReferenceList​>455680 ······​</​ExternalReferenceList​>
455904 ······​<DisorderDisorderAsso​ciationList·​count="0">455681 ······​<DisorderDisorderAsso​ciationList·​count="0">
455905 ······​</​DisorderDisorderAssoc​iationList>455682 ······​</​DisorderDisorderAssoc​iationList>
455906 ······​<SummaryInformationLi​st·​count="0">455683 ······​<SummaryInformationLi​st·​count="1">
455684 ········​<SummaryInformation·​id="129265"·​lang="fr">
455685 ··········​<TextSectionList·​count="1">
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455687 ··············​<TextSectionType·​id="16907">
455688 ················​<Name·​lang="fr">Définition<​/​Name>
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455690 ··············​<Contents>Acidurie·​organique·​rare·​caractérisée·​par·​l'apparition·​précoce·​d'un·​retard·​de·​développement·​global·​avec·​une·​déficience·​intellectuelle·​sévère,​·​des·​crises·​convulsives·​et·​une·​acidurie·​3-​méthylglutaconique.​·​Les·​autres·​signes·​cliniques·​sont·​une·​hypotonie,​·​une·​hyperactivité,​·​un·​comportement·​agressif,​·​une·​atrophie·​optique·​ou·​une·​spasticité.​·​L'IRM·​peut·​révéler·​une·​atrophie·​cérébrale·​généralisée·​et·​des·​anomalies·​de·​la·​substance·​blanche.​</​Contents>
455691 ············​</​TextSection>
455692 ··········​</​TextSectionList>
455693 ········​</​SummaryInformation>
455907 ······​</​SummaryInformationLis​t>455694 ······​</​SummaryInformationLis​t>
455908 ····​</​Disorder>455695 ····​</​Disorder>
455909 ····​<Disorder·​id="8724">455696 ····​<Disorder·​id="8724">
456789 ······​</​ExternalReferenceList​>456576 ······​</​ExternalReferenceList​>
456790 ······​<DisorderDisorderAsso​ciationList·​count="0">456577 ······​<DisorderDisorderAsso​ciationList·​count="0">
456791 ······​</​DisorderDisorderAssoc​iationList>456578 ······​</​DisorderDisorderAssoc​iationList>
456792 ······​<SummaryInformationLi​st·​count="0">456579 ······​<SummaryInformationLi​st·​count="1">
456580 ········​<SummaryInformation·​id="129220"·​lang="fr">
456581 ··········​<TextSectionList·​count="1">
456582 ············​<TextSection·​id="168250"·​lang="fr">
456583 ··············​<TextSectionType·​id="16907">
456584 ················​<Name·​lang="fr">Définition<​/​Name>
456585 ··············​</​TextSectionType>
456586 ··············​<Contents>Maladie·​neurologique·​génétique·​rare·​caractérisée·​par·​une·​dystonie·​apparaissant·​dans·​l'enfance·​et·​des·​changements·​distincts·​au·​niveau·​des·​ganglions·​de·​la·​base·​mis·​en·​évidence·​par·​l'IRM,​·​et·​une·​atrophie·​optique·​se·​développant·​immédiatement·​ou·​quelques·​années·​après·​l'apparition·​de·​la·​dystonie.​·​Les·​autres·​signes·​cliniques·​incluent·​la·​chorée·​et·​d'autres·​mouvements·​anormaux,​·​la·​dysarthrie·​ou·​le·​nystagmus.​·​Le·​handicap·​moteur·​évolue·​progressivement,​·​tandis·​que·​les·​fonctions·​cognitives·​sont·​relativement·​épargnées.​</​Contents>
456587 ············​</​TextSection>
456588 ··········​</​TextSectionList>
456589 ········​</​SummaryInformation>
456793 ······​</​SummaryInformationLis​t>456590 ······​</​SummaryInformationLis​t>
456794 ····​</​Disorder>456591 ····​</​Disorder>
456795 ····​<Disorder·​id="26576">456592 ····​<Disorder·​id="26576">
457496 ······​</​ExternalReferenceList​>457293 ······​</​ExternalReferenceList​>
457497 ······​<DisorderDisorderAsso​ciationList·​count="0">457294 ······​<DisorderDisorderAsso​ciationList·​count="0">
457498 ······​</​DisorderDisorderAssoc​iationList>457295 ······​</​DisorderDisorderAssoc​iationList>
457499 ······​<SummaryInformationLi​st·​count="0">457296 ······​<SummaryInformationLi​st·​count="1">
457297 ········​<SummaryInformation·​id="129267"·​lang="fr">
457298 ··········​<TextSectionList·​count="1">
457299 ············​<TextSection·​id="168397"·​lang="fr">
457300 ··············​<TextSectionType·​id="16907">
457301 ················​<Name·​lang="fr">Définition<​/​Name>
457302 ··············​</​TextSectionType>
457303 ··············​<Contents>Maladie·​neurologique·​génétique·​rare·​caractérisée·​par·​une·​paraparésie·​spastique·​progressive·​et·​un·​retard·​de·​développement·​de·​la·​motricité·​globale,​·​survenant·​au·​cours·​de·​l'enfance·​ou·​de·​la·​petite·​enfance.​·​Les·​patients·​manifestent·​également·​une·​déficience·​intellectuelle·​de·​degré·​variable,​·​ainsi·​qu'un·​retard·​de·​langage·​et·​une·​dysarthrie.​·​Les·​autres·​signes·​cliniques·​rapportées·​incluent·​la·​microcéphalie,​·​les·​crises·​convulsives,​·​la·​luette·​bifide·​avec·​ou·​sans·​fente·​palatine·​et·​des·​anomalies·​oculaires.​·​L'IRM·​révèle·​des·​anomalies·​de·​la·​substance·​blanche·​dans·​les·​régions·​périventriculaires·​et·​dans·​d'autres·​régions.​</​Contents>
457304 ············​</​TextSection>
457305 ··········​</​TextSectionList>
457306 ········​</​SummaryInformation>
457500 ······​</​SummaryInformationLis​t>457307 ······​</​SummaryInformationLis​t>
457501 ····​</​Disorder>457308 ····​</​Disorder>
457502 ····​<Disorder·​id="26444">457309 ····​<Disorder·​id="26444">
459221 ······​<DisorderGroup·​id="36547">459028 ······​<DisorderGroup·​id="36547">
459222 ········​<Name·​lang="fr">Pathologie<​/​Name>459029 ········​<Name·​lang="fr">Pathologie<​/​Name>
459223 ······​</​DisorderGroup>459030 ······​</​DisorderGroup>
459224 ······​<ExternalReferenceLis​t·​count="3">459031 ······​<ExternalReferenceLis​t·​count="5">
459225 ········​<ExternalReference·​id="154906">459032 ········​<ExternalReference·​id="154906">
459226 ··········​<Source>OMIM</​Source>459033 ··········​<Source>OMIM</​Source>
459227 ··········​<Reference>275355</​Reference>459034 ··········​<Reference>275355</​Reference>
459233 ············​<Name·​lang="fr">Validé</​Name>459040 ············​<Name·​lang="fr">Validé</​Name>
459234 ··········​</​DisorderMappingValida​tionStatus>459041 ··········​</​DisorderMappingValida​tionStatus>
459235 ········​</​ExternalReference>459042 ········​</​ExternalReference>
459236 ········​<ExternalReference·​id="194014">459043 ········​<ExternalReference·​id="200331">
459237 ··········​<Source>ICD-​10</​Source>459044 ··········​<Source>ICD-​10</​Source>
459238 ··········​<Reference>C12</​Reference>459045 ··········​<Reference>C12</​Reference>
459239 ··········​<DisorderMappingRelat​ion·​id="21541">459046 ··········​<DisorderMappingRelat​ion·​id="21541">
459242 ··········​<DisorderMappingICDRe​lation·​id="21604">459049 ··········​<DisorderMappingICDRe​lation·​id="21604">
459243 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>459050 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>
459244 ··········​</​DisorderMappingICDRel​ation>459051 ··········​</​DisorderMappingICDRel​ation>
459245 ··········​<DisorderMappingValid​ationStatus·​id="21618">459052 ··········​<DisorderMappingValid​ationStatus·​id="21611">
459246 ············​<Name·​lang="fr">En·cours·de·validation</​Name>459053 ············​<Name·​lang="fr">Validé</​Name>
459247 ··········​</​DisorderMappingValida​tionStatus>459054 ··········​</​DisorderMappingValida​tionStatus>
459248 ········​</​ExternalReference>459055 ········​</​ExternalReference>
459249 ········​<ExternalReference·​id="194015">459056 ········​<ExternalReference·​id="200332">
459250 ··········​<Source>ICD-​10</​Source>459057 ··········​<Source>ICD-​10</​Source>
459251 ··········​<Reference>C13.​8</​Reference>459058 ··········​<Reference>C13.​8</​Reference>
459252 ··········​<DisorderMappingRelat​ion·​id="21541">459059 ··········​<DisorderMappingRelat​ion·​id="21541">
459255 ··········​<DisorderMappingICDRe​lation·​id="21604">459062 ··········​<DisorderMappingICDRe​lation·​id="21604">
459256 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>459063 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>
459257 ··········​</​DisorderMappingICDRel​ation>459064 ··········​</​DisorderMappingICDRel​ation>
459258 ··········​<DisorderMappingValid​ationStatus·​id="21618">459065 ··········​<DisorderMappingValid​ationStatus·​id="21611">
459259 ············​<Name·​lang="fr">En·cours·de·validation</​Name>459066 ············​<Name·​lang="fr">Validé</​Name>
459067 ··········​</​DisorderMappingValida​tionStatus>
459068 ········​</​ExternalReference>
459069 ········​<ExternalReference·​id="200333">
459070 ··········​<Source>ICD-​10</​Source>
459071 ··········​<Reference>C13.​0</​Reference>
459072 ··········​<DisorderMappingRelat​ion·​id="21541">
459073 ············​<Name·​lang="fr">Le·​code·​ORPHA·​est·​plus·​générique·​que·​le·​concept·​dans·​la·​terminologie·​cible</​Name>
459074 ··········​</​DisorderMappingRelati​on>
459075 ··········​<DisorderMappingICDRe​lation·​id="21604">
459076 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>
459077 ··········​</​DisorderMappingICDRel​ation>
459078 ··········​<DisorderMappingValid​ationStatus·​id="21611">
459079 ············​<Name·​lang="fr">Validé</​Name>
459080 ··········​</​DisorderMappingValida​tionStatus>
459081 ········​</​ExternalReference>
459082 ········​<ExternalReference·​id="200330">
459083 ··········​<Source>ICD-​10</​Source>
459084 ··········​<Reference>C13.​2</​Reference>
459085 ··········​<DisorderMappingRelat​ion·​id="21541">
459086 ············​<Name·​lang="fr">Le·​code·​ORPHA·​est·​plus·​générique·​que·​le·​concept·​dans·​la·​terminologie·​cible</​Name>
459087 ··········​</​DisorderMappingRelati​on>
459088 ··········​<DisorderMappingICDRe​lation·​id="21604">
459089 ············​<Name·​lang="fr">Attribué·​(Le·​code·​CIM10·​est·​attribué·​par·​Orphanet)​</​Name>
459090 ··········​</​DisorderMappingICDRel​ation>
459091 ··········​<DisorderMappingValid​ationStatus·​id="21611">
459092 ············​<Name·​lang="fr">Validé</​Name>
459260 ··········​</​DisorderMappingValida​tionStatus>459093 ··········​</​DisorderMappingValida​tionStatus>
459261 ········​</​ExternalReference>459094 ········​</​ExternalReference>
459262 ······​</​ExternalReferenceList​>459095 ······​</​ExternalReferenceList​>
463551 ······​</​ExternalReferenceList​>463384 ······​</​ExternalReferenceList​>
463552 ······​<DisorderDisorderAsso​ciationList·​count="0">463385 ······​<DisorderDisorderAsso​ciationList·​count="0">
463553 ······​</​DisorderDisorderAssoc​iationList>463386 ······​</​DisorderDisorderAssoc​iationList>
463554 ······​<SummaryInformationLi​st·​count="0">463387 ······​<SummaryInformationLi​st·​count="1">
463388 ········​<SummaryInformation·​id="129207"·​lang="fr">
463389 ··········​<TextSectionList·​count="1">
463390 ············​<TextSection·​id="168237"·​lang="fr">
463391 ··············​<TextSectionType·​id="16907">
463392 ················​<Name·​lang="fr">Définition<​/​Name>
463393 ··············​</​TextSectionType>
463394 ··············​<Contents>Mycose·​rare·​caractérisée·​par·​une·​inflammation·​granulomateuse·​principalement·​du·​poumon·​après·​inhalation·​de·​spores·​de·​&lt;​i&gt;​Histoplasma·​capsulatum&lt;​/​i&gt;​.​·​La·​sévérité·​de·​l'évolution·​clinique·​de·​la·​maladie·​dépend·​de·​l'état·​immunitaire·​de·​l'individu·​et·​de·​la·​taille·​de·​l'inoculum.​·​Chez·​les·​personnes·​immunocompétentes,​·​l'infection·​évolue·​généralement·​de·​manière·​autolimitée·​et·​asymptomatique·​ou·​relativement·​légère,​·​semblable·​à·​une·​grippe.​·​Chez·​les·​patients·​immunodéprimés,​·​elle·​peut·​devenir·​progressive·​et·​disséminée,​·​touchant·​de·​multiples·​organes·​et·​se·​manifestant,​·​entre·​autres,​·​par·​de·​la·​fièvre,​·​une·​pneumonie,​·​une·​hépatosplénomégalie,​·​des·​infiltrats·​cutanés·​et·​une·​endocardite.​</​Contents>
463395 ············​</​TextSection>
463396 ··········​</​TextSectionList>
463397 ········​</​SummaryInformation>
463555 ······​</​SummaryInformationLis​t>463398 ······​</​SummaryInformationLis​t>
463556 ····​</​Disorder>463399 ····​</​Disorder>
463557 ····​<Disorder·​id="8545">463400 ····​<Disorder·​id="8545">
469128 ······​</​ExternalReferenceList​>468971 ······​</​ExternalReferenceList​>
469129 ······​<DisorderDisorderAsso​ciationList·​count="0">468972 ······​<DisorderDisorderAsso​ciationList·​count="0">
469130 ······​</​DisorderDisorderAssoc​iationList>468973 ······​</​DisorderDisorderAssoc​iationList>
469131 ······​<SummaryInformationLi​st·​count="0">468974 ······​<SummaryInformationLi​st·​count="1">
468975 ········​<SummaryInformation·​id="129262"·​lang="fr">
468976 ··········​<TextSectionList·​count="1">
468977 ············​<TextSection·​id="168392"·​lang="fr">
468978 ··············​<TextSectionType·​id="16907">
468979 ················​<Name·​lang="fr">Définition<​/​Name>
468980 ··············​</​TextSectionType>
468981 ··············​<Contents>Anomalie·​rare·​du·​cycle·​menstruel·​et/​ou·​de·​la·​puberté·​caractérisée·​par·​des·​fièvres·​récurrentes·​(supérieures·​à·​38°C)​·​associées·​à·​la·​phase·​lutéale·​du·​cycle·​menstruel·​chez·​la·​femme.​</​Contents>
468982 ············​</​TextSection>
468983 ··········​</​TextSectionList>
468984 ········​</​SummaryInformation>
469132 ······​</​SummaryInformationLis​t>468985 ······​</​SummaryInformationLis​t>
469133 ····​</​Disorder>468986 ····​</​Disorder>
469134 ····​<Disorder·​id="8686">468987 ····​<Disorder·​id="8686">
474959 ······​</​ExternalReferenceList​>474812 ······​</​ExternalReferenceList​>
474960 ······​<DisorderDisorderAsso​ciationList·​count="0">474813 ······​<DisorderDisorderAsso​ciationList·​count="0">
474961 ······​</​DisorderDisorderAssoc​iationList>474814 ······​</​DisorderDisorderAssoc​iationList>
474962 ······​<SummaryInformationLi​st·​count="1">474815 ······​<SummaryInformationLi​st·​count="0">
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474967 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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474971 ····​</​Disorder>474817 ····​</​Disorder>
474972 ····​<Disorder·​id="25312">474818 ····​<Disorder·​id="25312">
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475006 ······​<DisorderDisorderAsso​ciationList·​count="0">474852 ······​<DisorderDisorderAsso​ciationList·​count="0">
475007 ······​</​DisorderDisorderAssoc​iationList>474853 ······​</​DisorderDisorderAssoc​iationList>
475008 ······​<SummaryInformationLi​st·​count="0">474854 ······​<SummaryInformationLi​st·​count="1">
474855 ········​<SummaryInformation·​id="129250"·​lang="fr">
474856 ··········​<TextSectionList·​count="1">
474857 ············​<TextSection·​id="168380"·​lang="fr">
474858 ··············​<TextSectionType·​id="16907">
474859 ················​<Name·​lang="fr">Définition<​/​Name>
474860 ··············​</​TextSectionType>
474861 ··············​<Contents>Maladie·​parenchymateuse·​rare·​du·​foie·​caractérisée·​par·​une·​fibrose·​progressive·​des·​veines·​portes·​due·​à·​un·​arrêt·​de·​la·​maturation·​de·​la·​plaque·​ductale·​des·​voies·​biliaires·​intrahépatiques.​·​Sur·​le·​plan·​clinique,​·​elle·​peut·​se·​manifester·​par·​une·​hypertension·​portale,​·​une·​cholangite,​·​mixte·​ou·​latente.​·​Les·​symptômes·​apparaissent·​le·​plus·​souvent·​à·​l'adolescence·​ou·​au·​début·​de·​l'âge·​adulte.​·​La·​fonction·​hépatocellulaire·​est·​relativement·​bien·​préservée.​</​Contents>
474862 ············​</​TextSection>
474863 ··········​</​TextSectionList>
474864 ········​</​SummaryInformation>
475009 ······​</​SummaryInformationLis​t>474865 ······​</​SummaryInformationLis​t>
475010 ····​</​Disorder>474866 ····​</​Disorder>
475011 ····​<Disorder·​id="25329">474867 ····​<Disorder·​id="25329">
475140 ······​</​ExternalReferenceList​>474996 ······​</​ExternalReferenceList​>
475141 ······​<DisorderDisorderAsso​ciationList·​count="0">474997 ······​<DisorderDisorderAsso​ciationList·​count="0">
475142 ······​</​DisorderDisorderAssoc​iationList>474998 ······​</​DisorderDisorderAssoc​iationList>
475143 ······​<SummaryInformationLi​st·​count="0">474999 ······​<SummaryInformationLi​st·​count="1">
475000 ········​<SummaryInformation·​id="129210"·​lang="fr">
475001 ··········​<TextSectionList·​count="1">
475002 ············​<TextSection·​id="168240"·​lang="fr">
475003 ··············​<TextSectionType·​id="16907">
475004 ················​<Name·​lang="fr">Définition<​/​Name>
475005 ··············​</​TextSectionType>
475006 ··············​<Contents>Maladie·​héréditaire·​rare·​avec·​neuropathie·​périphérique·​caractérisée·​par·​une·​neuropathie·​distale·​sensorimotrice·​ou·​motrice·​des·​membres·​inférieurs·​avec·​une·​faiblesse·​et·​atrophie·​musculaires.​·​Certains·​patients·​manifestent·​une·​maladie·​du·​tissu·​conjonctif·​avec·​des·​signes·​cliniques·​et·​des·​symptômes·​tels·​qu'une·​élasticité·​accrue·​de·​la·​peau·​et·​une·​tendance·​aux·​ecchymoses·​(sans·​cicatrices·​atrophiques)​,​·​une·​diminution·​de·​la·​coagulation,​·​des·​anévrismes·​aortiques,​·​une·​hypermobilité·​articulaire·​et·​des·​ruptures·​récurrentes·​de·​tendons.​</​Contents>
475007 ············​</​TextSection>
475008 ··········​</​TextSectionList>
475009 ········​</​SummaryInformation>
475144 ······​</​SummaryInformationLis​t>475010 ······​</​SummaryInformationLis​t>
475145 ····​</​Disorder>475011 ····​</​Disorder>
475146 ····​<Disorder·​id="25311">475012 ····​<Disorder·​id="25311">
477520 ······​</​ExternalReferenceList​>477386 ······​</​ExternalReferenceList​>
477521 ······​<DisorderDisorderAsso​ciationList·​count="0">477387 ······​<DisorderDisorderAsso​ciationList·​count="0">
477522 ······​</​DisorderDisorderAssoc​iationList>477388 ······​</​DisorderDisorderAssoc​iationList>
477523 ······​<SummaryInformationLi​st·​count="0">477389 ······​<SummaryInformationLi​st·​count="1">
477390 ········​<SummaryInformation·​id="129254"·​lang="fr">
477391 ··········​<TextSectionList·​count="1">
477392 ············​<TextSection·​id="168384"·​lang="fr">
477393 ··············​<TextSectionType·​id="16907">
477394 ················​<Name·​lang="fr">Définition<​/​Name>
477395 ··············​</​TextSectionType>
477396 ··············​<Contents>Maladie·​rare·​des·​voies·​biliaires·​caractérisée·​par·​une·​dilatation·​congénitale·​fusiforme·​ou·​kystique·​des·​voies·​biliaires·​intra-​·​et/​ou·​extra-​hépatiques.​·​Les·​femmes·​sont·​beaucoup·​plus·​souvent·​affectées·​que·​les·​hommes.​·​Les·​signes·​cliniques·​et·​les·​symptômes·​incluent·​des·​douleurs·​abdominales,​·​un·​ictère,​·​la·​présence·​d'une·​masse·​abdominale·​à·​la·​palpation,​·​des·​nausées,​·​des·​vomissements·​ou·​de·​la·​fièvre.​·​Selon·​l'âge·​du·​patient,​·​les·​complications·​sont·​la·​formation·​de·​calculs,​·​une·​hépatomégalie,​·​une·​péritonite·​biliaire·​par·​rupture,​·​une·​cholangite,​·​une·​cholécystite,​·​des·​sténoses·​biliaires,​·​une·​pancréatite·​ou·​une·​cirrhose·​biliaire·​secondaire.​·​La·​maladie·​augmente·​considérablement·​le·​risque·​de·​développer·​un·​cancer,​·​en·​particulier·​un·​cholangiocarcinome.​</​Contents>
477397 ············​</​TextSection>
477398 ··········​</​TextSectionList>
477399 ········​</​SummaryInformation>
477524 ······​</​SummaryInformationLis​t>477400 ······​</​SummaryInformationLis​t>
477525 ····​</​Disorder>477401 ····​</​Disorder>
477526 ····​<Disorder·​id="25211">477402 ····​<Disorder·​id="25211">
478912 ······​</​ExternalReferenceList​>478788 ······​</​ExternalReferenceList​>
478913 ······​<DisorderDisorderAsso​ciationList·​count="0">478789 ······​<DisorderDisorderAsso​ciationList·​count="0">
478914 ······​</​DisorderDisorderAssoc​iationList>478790 ······​</​DisorderDisorderAssoc​iationList>
478915 ······​<SummaryInformationLi​st·​count="1">478791 ······​<SummaryInformationLi​st·​count="0">
478916 ········<SummaryInformation·id="-​1"·lang="fr">
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478918 ··········</​TextSectionList>
478919 ··········<TextAuto>
478920 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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478924 ····​</​Disorder>478793 ····​</​Disorder>
478925 ····​<Disorder·​id="25148">478794 ····​<Disorder·​id="25148">
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478945 ······​<DisorderDisorderAsso​ciationList·​count="0">478814 ······​<DisorderDisorderAsso​ciationList·​count="0">
478946 ······​</​DisorderDisorderAssoc​iationList>478815 ······​</​DisorderDisorderAssoc​iationList>
478947 ······​<SummaryInformationLi​st·​count="1">478816 ······​<SummaryInformationLi​st·​count="0">
478948 ········<SummaryInformation·id="-​1"·lang="fr">
478949 ··········<TextSectionList·count="0">
478950 ··········</​TextSectionList>
478951 ··········<TextAuto>
478952 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
478953 ··········</​TextAuto>
478954 ········</​SummaryInformation>
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478956 ····​</​Disorder>478818 ····​</​Disorder>
478957 ····​<Disorder·​id="25150">478819 ····​<Disorder·​id="25150">
479028 ······​</​ExternalReferenceList​>478890 ······​</​ExternalReferenceList​>
479029 ······​<DisorderDisorderAsso​ciationList·​count="0">478891 ······​<DisorderDisorderAsso​ciationList·​count="0">
479030 ······​</​DisorderDisorderAssoc​iationList>478892 ······​</​DisorderDisorderAssoc​iationList>
479031 ······​<SummaryInformationLi​st·​count="1">478893 ······​<SummaryInformationLi​st·​count="0">
479032 ········<SummaryInformation·id="-​1"·lang="fr">
479033 ··········<TextSectionList·count="0">
479034 ··········</​TextSectionList>
479035 ··········<TextAuto>
479036 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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479040 ····​</​Disorder>478895 ····​</​Disorder>
479041 ····​<Disorder·​id="25091">478896 ····​<Disorder·​id="25091">
479097 ······​</​ExternalReferenceList​>478952 ······​</​ExternalReferenceList​>
479098 ······​<DisorderDisorderAsso​ciationList·​count="0">478953 ······​<DisorderDisorderAsso​ciationList·​count="0">
479099 ······​</​DisorderDisorderAssoc​iationList>478954 ······​</​DisorderDisorderAssoc​iationList>
479100 ······​<SummaryInformationLi​st·​count="1">478955 ······​<SummaryInformationLi​st·​count="0">
479101 ········<SummaryInformation·id="-​1"·lang="fr">
479102 ··········<TextSectionList·count="0">
479103 ··········</​TextSectionList>
479104 ··········<TextAuto>
479105 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
479106 ··········</​TextAuto>
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479109 ····​</​Disorder>478957 ····​</​Disorder>
479110 ····​<Disorder·​id="25089">478958 ····​<Disorder·​id="25089">
479192 ······​</​ExternalReferenceList​>479040 ······​</​ExternalReferenceList​>
479193 ······​<DisorderDisorderAsso​ciationList·​count="0">479041 ······​<DisorderDisorderAsso​ciationList·​count="0">
479194 ······​</​DisorderDisorderAssoc​iationList>479042 ······​</​DisorderDisorderAssoc​iationList>
479195 ······​<SummaryInformationLi​st·​count="1">479043 ······​<SummaryInformationLi​st·​count="0">
479196 ········<SummaryInformation·id="-​1"·lang="fr">
479197 ··········<TextSectionList·count="0">
479198 ··········</​TextSectionList>
479199 ··········<TextAuto>
479200 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
479201 ··········</​TextAuto>
479202 ········</​SummaryInformation>
479203 ······​</​SummaryInformationLis​t>479044 ······​</​SummaryInformationLis​t>
479204 ····​</​Disorder>479045 ····​</​Disorder>
479205 ····​<Disorder·​id="25093">479046 ····​<Disorder·​id="25093">
483245 ······​</​ExternalReferenceList​>483086 ······​</​ExternalReferenceList​>
483246 ······​<DisorderDisorderAsso​ciationList·​count="0">483087 ······​<DisorderDisorderAsso​ciationList·​count="0">
483247 ······​</​DisorderDisorderAssoc​iationList>483088 ······​</​DisorderDisorderAssoc​iationList>
483248 ······​<SummaryInformationLi​st·​count="0">483089 ······​<SummaryInformationLi​st·​count="1">
483090 ········​<SummaryInformation·​id="129208"·​lang="fr">
483091 ··········​<TextSectionList·​count="1">
483092 ············​<TextSection·​id="168238"·​lang="fr">
483093 ··············​<TextSectionType·​id="16907">
483094 ················​<Name·​lang="fr">Définition<​/​Name>
483095 ··············​</​TextSectionType>
483096 ··············​<Contents>Maladie·​gastro-​oesophagienne·​idiopathique·​rare·​caractérisée·​par·​un·​retard·​de·​la·​vidange·​gastrique·​en·​l'absence·​d'obstruction·​mécanique·​de·​la·​sortie·​gastrique.​·​Les·​patients·​manifestent·​des·​symptômes·​tels·​que·​des·​nausées,​·​des·​vomissements,​·​une·​satiété·​précoce,​·​une·​plénitude·​postprandiale,​·​des·​ballonnements,​·​des·​douleurs·​abdominales·​et,​·​dans·​les·​cas·​les·​plus·​sévères,​·​une·​déshydratation,​·​des·​troubles·​électrolytiques,​·​une·​perte·​de·​poids·​et·​une·​malnutrition.​</​Contents>
483097 ············​</​TextSection>
483098 ··········​</​TextSectionList>
483099 ········​</​SummaryInformation>
483249 ······​</​SummaryInformationLis​t>483100 ······​</​SummaryInformationLis​t>
483250 ····​</​Disorder>483101 ····​</​Disorder>
483251 ····​<Disorder·​id="10962">483102 ····​<Disorder·​id="10962">
490453 ······​</​ExternalReferenceList​>490304 ······​</​ExternalReferenceList​>
490454 ······​<DisorderDisorderAsso​ciationList·​count="0">490305 ······​<DisorderDisorderAsso​ciationList·​count="0">
490455 ······​</​DisorderDisorderAssoc​iationList>490306 ······​</​DisorderDisorderAssoc​iationList>
490456 ······​<SummaryInformationLi​st·​count="1">490307 ······​<SummaryInformationLi​st·​count="0">
490457 ········<SummaryInformation·id="-​1"·lang="fr">
490458 ··········<TextSectionList·count="0">
490459 ··········</​TextSectionList>
490460 ··········<TextAuto>
490461 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
490462 ··········</​TextAuto>
490463 ········</​SummaryInformation>
490464 ······​</​SummaryInformationLis​t>490308 ······​</​SummaryInformationLis​t>
490465 ····​</​Disorder>490309 ····​</​Disorder>
490466 ····​<Disorder·​id="10851">490310 ····​<Disorder·​id="10851">
491625 ······​</​ExternalReferenceList​>491469 ······​</​ExternalReferenceList​>
491626 ······​<DisorderDisorderAsso​ciationList·​count="0">491470 ······​<DisorderDisorderAsso​ciationList·​count="0">
491627 ······​</​DisorderDisorderAssoc​iationList>491471 ······​</​DisorderDisorderAssoc​iationList>
491628 ······​<SummaryInformationLi​st·​count="0">491472 ······​<SummaryInformationLi​st·​count="1">
491473 ········​<SummaryInformation·​id="129213"·​lang="fr">
491474 ··········​<TextSectionList·​count="1">
491475 ············​<TextSection·​id="168243"·​lang="fr">
491476 ··············​<TextSectionType·​id="16907">
491477 ················​<Name·​lang="fr">Définition<​/​Name>
491478 ··············​</​TextSectionType>
491479 ··············​<Contents>Syndrome·​épileptique·​du·​nouveau-​né·​caractérisé·​par·​des·​crises·​convulsives·​sans·​cause·​sous-​jacente·​spécifique,​·​survenant·​au·​cours·​des·​premiers·​jours·​de·​vie·​chez·​des·​nourrissons·​présentant·​un·​état·​neurologique·​par·​ailleurs·​normal·​et·​sans·​antécédents·​familiaux·​de·​convulsions·​néonatales.​·​Les·​crises·​partielles·​et·​cloniques,​·​les·​plus·​fréquentes,​·​durent·​généralement·​entre·​une·​et·​trois·​minutes.​·​Des·​crises·​convulsives·​répétées·​peuvent·​conduire·​à·​un·​état·​épileptique·​persistant·​jusqu'à·​20·​heures.​·​Dans·​l'ensemble,​·​les·​taux·​de·​rémission·​sont·​élevés·​et·​l'état·​neurologique·​est·​favorable.​</​Contents>
491480 ············​</​TextSection>
491481 ··········​</​TextSectionList>
491482 ········​</​SummaryInformation>
491629 ······​</​SummaryInformationLis​t>491483 ······​</​SummaryInformationLis​t>
491630 ····​</​Disorder>491484 ····​</​Disorder>
491631 ····​<Disorder·​id="10833">491485 ····​<Disorder·​id="10833">
491987 ······​</​ExternalReferenceList​>491841 ······​</​ExternalReferenceList​>
491988 ······​<DisorderDisorderAsso​ciationList·​count="0">491842 ······​<DisorderDisorderAsso​ciationList·​count="0">
491989 ······​</​DisorderDisorderAssoc​iationList>491843 ······​</​DisorderDisorderAssoc​iationList>
491990 ······​<SummaryInformationLi​st·​count="0">491844 ······​<SummaryInformationLi​st·​count="1">
491845 ········​<SummaryInformation·​id="129264"·​lang="fr">
491846 ··········​<TextSectionList·​count="1">
491847 ············​<TextSection·​id="168394"·​lang="fr">
491848 ··············​<TextSectionType·​id="16907">
491849 ················​<Name·​lang="fr">Définition<​/​Name>
491850 ··············​</​TextSectionType>
491851 ··············​<Contents>Maladie·​infectieuse·​bactérienne·​rare·​causée·​par·​la·​bactérie·​&lt;​i&gt;​Bartonella·​quintana&lt;​/​i&gt;​·​transmise·​par·​les·​poux·​et·​caractérisée·​par·​un·​tableau·​clinique·​variable·​avec·​apparition·​aiguë·​ou·​insidieuse·​d'une·​maladie·​fébrile·​(potentiellement·​récidivante)​,​·​des·​maux·​de·​tête,​·​des·​douleurs·​dans·​les·​jambes·​(le·​plus·​souvent·​le·​tibia)​,​·​d'une·​endocardite·​et·​d'une·​thrombocytopénie.​·​Les·​symptômes·​peuvent·​également·​être·​non·​spécifiques,​·​semblables·​à·​ceux·​d'autres·​infections.​·​La·​maladie·​touche·​le·​plus·​souvent·​des·​personnes·​socialement·​défavorisées·​dans·​les·​zones·​urbaines.​</​Contents>
491852 ············​</​TextSection>
491853 ··········​</​TextSectionList>
491854 ········​</​SummaryInformation>
491991 ······​</​SummaryInformationLis​t>491855 ······​</​SummaryInformationLis​t>
491992 ····​</​Disorder>491856 ····​</​Disorder>
491993 ····​<Disorder·​id="10836">491857 ····​<Disorder·​id="10836">
492641 ······​</​ExternalReferenceList​>492505 ······​</​ExternalReferenceList​>
492642 ······​<DisorderDisorderAsso​ciationList·​count="0">492506 ······​<DisorderDisorderAsso​ciationList·​count="0">
492643 ······​</​DisorderDisorderAssoc​iationList>492507 ······​</​DisorderDisorderAssoc​iationList>
492644 ······​<SummaryInformationLi​st·​count="1">492508 ······​<SummaryInformationLi​st·​count="0">
492645 ········<SummaryInformation·id="-​1"·lang="fr">
492646 ··········<TextSectionList·count="0">
492647 ··········</​TextSectionList>
492648 ··········<TextAuto>
492649 ············<Info·lang="fr">Cette·maladie·n'est·pas·rare·en·Europe.​·Elle·n'appartient·pas·à·la·nomenclature·Orphanet·des·maladies·rares.​</​Info>
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492652 ······​</​SummaryInformationLis​t>492509 ······​</​SummaryInformationLis​t>
492653 ····​</​Disorder>492510 ····​</​Disorder>
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493243 ····​</​Disorder>493110 ····​</​Disorder>
493244 ····​<Disorder·​id="10826">493111 ····​<Disorder·​id="10826">
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508060 ····​</​Disorder>507916 ····​</​Disorder>
508061 ····​<Disorder·​id="11077">507917 ····​<Disorder·​id="11077">
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510935 ········​<DisorderFlag·​id="461">510791 ········​<DisorderFlag·​id="455">
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511237 ··············​<Contents>Maladie·​cardiaque·​rare·​d'origine·​génétique·​caractérisée·​par·​un·​remplissage·​ventriculaire·​restrictif·​dû·​à·​une·​augmentation·​de·​la·​rigidité·​ventriculaire·​entraînant·​une·​dysfonction·​diastolique·​sévère·​en·​l'absence·​de·​dilatation·​et·​d'hypertrophie·​de·​ventricules.​</​Contents>
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511239 ··········​</​TextSectionList>
511240 ········​</​SummaryInformation>
511375 ······​</​SummaryInformationLis​t>511241 ······​</​SummaryInformationLis​t>
511376 ····​</​Disorder>511242 ····​</​Disorder>
511377 ····​<Disorder·​id="11068">511243 ····​<Disorder·​id="11068">
514353 ······​</​ExternalReferenceList​>514219 ······​</​ExternalReferenceList​>
514354 ······​<DisorderDisorderAsso​ciationList·​count="0">514220 ······​<DisorderDisorderAsso​ciationList·​count="0">
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514356 ······​<SummaryInformationLi​st·​count="1">514222 ······​<SummaryInformationLi​st·​count="0">
514357 ········<SummaryInformation·id="-​1"·lang="fr">
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526098 ··············​<TextSectionType·​id="16907">
526099 ················​<Name·​lang="fr">Définition<​/​Name>
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526103 ··········​</​TextSectionList>
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526243 ······​</​SummaryInformationLis​t>526105 ······​</​SummaryInformationLis​t>
526244 ····​</​Disorder>526106 ····​</​Disorder>
526245 ····​<Disorder·​id="10714">526107 ····​<Disorder·​id="10714">
527810 ··········​</​DisorderDisorderAssoc​iationType>527672 ··········​</​DisorderDisorderAssoc​iationType>
527811 ········​</​DisorderDisorderAssoc​iation>527673 ········​</​DisorderDisorderAssoc​iation>
527812 ······​</​DisorderDisorderAssoc​iationList>527674 ······​</​DisorderDisorderAssoc​iationList>
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527823 ····​<Disorder·​id="10745">527678 ····​<Disorder·​id="10745">
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529276 ······​<SummaryInformationLi​st·​count="0">529131 ······​<SummaryInformationLi​st·​count="1">
529132 ········​<SummaryInformation·​id="129256"·​lang="fr">
529133 ··········​<TextSectionList·​count="1">
529134 ············​<TextSection·​id="168386"·​lang="fr">
529135 ··············​<TextSectionType·​id="16907">
529136 ················​<Name·​lang="fr">Définition<​/​Name>
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529138 ··············​<Contents>Immunodéfic​ience·​primaire·​autosomique·​récessive·​rare·​caractérisée·​par·​une·​susceptibilité·​aux·​maladies·​liés·​au·​virus·​d'Epstein-​Barr·​(EBV)​·​(maladies·​lymphoprolifératives·​à·​cellules·​B,​·​y·​compris·​le·​lymphome·​de·​Hodgkin)​·​ainsi·​que·​par·​une·​dysgammaglobulinémie·​et·​des·​infections·​récurrentes.​·​Les·​patients·​peuvent·​manifester·​une·​fièvre·​récurrente,​·​une·​lymphadénopathie,​·​une·​hépatosplénomégalie,​·​une·​stomatite·​de·​type·​Behçet,​·​une·​pharyngite,​·​une·​amygdalite,​·​une·​adénite·​et·​une·​encéphalite·​virale.​</​Contents>
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529140 ··········​</​TextSectionList>
529141 ········​</​SummaryInformation>
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529278 ····​</​Disorder>529143 ····​</​Disorder>
529279 ····​<Disorder·​id="10625">529144 ····​<Disorder·​id="10625">
532503 ······​</​ExternalReferenceList​>532368 ······​</​ExternalReferenceList​>
532504 ······​<DisorderDisorderAsso​ciationList·​count="0">532369 ······​<DisorderDisorderAsso​ciationList·​count="0">
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532506 ······​<SummaryInformationLi​st·​count="0">532371 ······​<SummaryInformationLi​st·​count="1">
532372 ········​<SummaryInformation·​id="129217"·​lang="fr">
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532374 ············​<TextSection·​id="168247"·​lang="fr">
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532376 ················​<Name·​lang="fr">Définition<​/​Name>
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532378 ··············​<Contents>Maladie·​génétique·​rare·​des·​petites·​artères·​cérébrales·​caractérisée·​par·​une·​leucoencéphalopathie,​·​une·​calcification·​et·​des·​kystes·​cérébraux·​dus·​à·​une·​microangiopathie·​cérébrale·​diffuse·​entraînant·​une·​dégénérescence·​parenchymateuse·​microkystique·​et·​macrocystique.​·​La·​maladie·​peut·​se·​présenter·​à·​tout·​âge,​·​de·​la·​petite·​enfance·​à·​la·​fin·​de·​l'âge·​adulte,​·​et·​se·​manifeste·​par·​une·​dégénérescence·​cérébrale·​progressive.​·​Les·​signes·​cliniques·​sont·​variables,​·​mais·​limités·​au·​système·​nerveux·​central,​·​et·​incluent,​·​entre·​autres,​·​une·​régression·​des·​performances·​cognitives,​·​des·​crises·​convulsives·​et·​des·​troubles·​du·​mouvement·​avec·​une·​association·​de·​symptômes·​d'une·​atteinte·​du·​système·​pyramidal,​·​extrapyramidal·​et·​cérébelleux.​</​Contents>
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532381 ········​</​SummaryInformation>
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532508 ····​</​Disorder>532383 ····​</​Disorder>
532509 ····​<Disorder·​id="10560">532384 ····​<Disorder·​id="10560">
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532817 ······​<DisorderDisorderAsso​ciationList·​count="0">532692 ······​<DisorderDisorderAsso​ciationList·​count="0">
532818 ······​</​DisorderDisorderAssoc​iationList>532693 ······​</​DisorderDisorderAssoc​iationList>
532819 ······​<SummaryInformationLi​st·​count="0">532694 ······​<SummaryInformationLi​st·​count="1">
532695 ········​<SummaryInformation·​id="129269"·​lang="fr">
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532697 ············​<TextSection·​id="168399"·​lang="fr">
532698 ··············​<TextSectionType·​id="16907">
532699 ················​<Name·​lang="fr">Définition<​/​Name>
532700 ··············​</​TextSectionType>
532701 ··············​<Contents>Maladie·​mitochondriale·​rare·​caractérisée·​par·​une·​neuropathie·​auditive·​bilatérale·​et·​une·​atrophie·​optique.​·​Les·​patients·​manifestent·​une·​déficience·​auditive·​et·​visuelle·​au·​cours·​de·​la·​première·​ou·​de·​la·​deuxième·​décennie·​de·​vie,​·​le·​développement·​psychomoteur·​étant·​normal.​·​L'association·​avec·​une·​rétinite·​pigmentaire·​bilatérale·​a·​été·​rapportée.​</​Contents>
532702 ············​</​TextSection>
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532821 ····​</​Disorder>532706 ····​</​Disorder>
532822 ····​<Disorder·​id="10580">532707 ····​<Disorder·​id="10580">
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534765 ······​<DisorderDisorderAsso​ciationList·​count="0">534650 ······​<DisorderDisorderAsso​ciationList·​count="0">
534766 ······​</​DisorderDisorderAssoc​iationList>534651 ······​</​DisorderDisorderAssoc​iationList>
534767 ······​<SummaryInformationLi​st·​count="1">534652 ······​<SummaryInformationLi​st·​count="0">
534768 ········<SummaryInformation·id="-​1"·lang="fr">
534769 ··········<TextSectionList·count="0">
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534772 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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537716 ····​<Disorder·​id="28123">537587 ····​<Disorder·​id="28123">
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538068 ······​<DisorderDisorderAsso​ciationList·​count="0">537939 ······​<DisorderDisorderAsso​ciationList·​count="0">
538069 ······​</​DisorderDisorderAssoc​iationList>537940 ······​</​DisorderDisorderAssoc​iationList>
538070 ······​<SummaryInformationLi​st·​count="0">537941 ······​<SummaryInformationLi​st·​count="1">
537942 ········​<SummaryInformation·​id="129216"·​lang="fr">
537943 ··········​<TextSectionList·​count="1">
537944 ············​<TextSection·​id="168246"·​lang="fr">
537945 ··············​<TextSectionType·​id="16907">
537946 ················​<Name·​lang="fr">Définition<​/​Name>
537947 ··············​</​TextSectionType>
537948 ··············​<Contents>Maladie·​neurométabolique·​génétique·​rare·​caractérisée·​par·​des·​crises·​épileptiques·​réfractaires·​néonatales·​à·​début·​précoce,​·​une·​hypotonie·​et·​une·​insuffisance·​respiratoire.​·​L'IRM·​révèle·​une·​structure·​peu·​marquée·​du·​gyrus·​des·​lobes·​frontaux,​·​des·​anomalies·​de·​la·​substance·​blanche,​·​une·​gliose·​et·​une·​perte·​de·​volume·​dans·​diverses·​régions·​du·​cerveau,​·​ainsi·​qu'un·​oedème·​vasogénique.​·​Les·​taux·​sériques·​de·​glutamine·​sont·​significativement·​élevés.​·​Le·​décès·​survient·​quelques·​semaines·​après·​la·​naissance.​</​Contents>
537949 ············​</​TextSection>
537950 ··········​</​TextSectionList>
537951 ········​</​SummaryInformation>
538071 ······​</​SummaryInformationLis​t>537952 ······​</​SummaryInformationLis​t>
538072 ····​</​Disorder>537953 ····​</​Disorder>
538073 ····​<Disorder·​id="28141">537954 ····​<Disorder·​id="28141">
538593 ······​</​ExternalReferenceList​>538474 ······​</​ExternalReferenceList​>
538594 ······​<DisorderDisorderAsso​ciationList·​count="0">538475 ······​<DisorderDisorderAsso​ciationList·​count="0">
538595 ······​</​DisorderDisorderAssoc​iationList>538476 ······​</​DisorderDisorderAssoc​iationList>
538596 ······​<SummaryInformationLi​st·​count="1">538477 ······​<SummaryInformationLi​st·​count="0">
538597 ········<SummaryInformation·id="-​1"·lang="fr">
538598 ··········<TextSectionList·count="0">
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538600 ··········<TextAuto>
538601 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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538605 ····​</​Disorder>538479 ····​</​Disorder>
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547357 ······​<DisorderDisorderAsso​ciationList·​count="0">547231 ······​<DisorderDisorderAsso​ciationList·​count="0">
547358 ······​</​DisorderDisorderAssoc​iationList>547232 ······​</​DisorderDisorderAssoc​iationList>
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547364 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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547368 ····​</​Disorder>547235 ····​</​Disorder>
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547819 ············<Info·lang="fr">Ce·terme·ne·caractérise·pas·une·maladie·mais·un·groupe·de·maladies.​·Pour·connaître·les·maladies·incluses·dans·ce·groupe,​·veuillez·consulter·les·classifications.​</​Info>
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547824 ····​<Disorder·​id="27378">547684 ····​<Disorder·​id="27378">
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553163 ········​<SummaryInformation·​id="129248"·​lang="fr">
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553165 ············​<TextSection·​id="168378"·​lang="fr">
553166 ··············​<TextSectionType·​id="16907">
553167 ················​<Name·​lang="fr">Définition<​/​Name>
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553169 ··············​<Contents>Maladie·​neurologique·​génétique·​rare·​caractérisée·​par·​l'association·​d'une·​paraplégie·​spastique·​congénitale·​avec·​un·​retard·​global·​de·​développement,​·​une·​déficience·​intellectuelle,​·​des·​anomalies·​ophtalmologiques·​(notamment·​un·​nystagmus,​·​une·​baisse·​de·​l'acuité·​visuelle·​ou·​une·​hypermétropie)​·​et·​l'obésité.​·​On·​observe·​par·​ailleurs·​une·​brachyplagiocéphalie·​et·​une·​dysmorphie·​faciale.​·​L'IRM·​peut·​mettre·​en·​évidence·​une·​dilatation·​des·​ventricules,​·​une·​myélinisation·​anormale·​et·​une·​légère·​atrophie·​généralisée.​·​Des·​variants·​homozygotes·​avec·​une·​perte·​de·​fonction·​de·​&lt;​i&gt;​KIDINS220&lt;​/​i&gt;​·​associés·​à·​un·​phénotype·​entraînant·​le·​décès·​du·​foetus·​avec·​une·​ventriculomégalie·​et·​des·​contractures·​des·​membres·​ont·​également·​été·​rapportés.​</​Contents>
553170 ············​</​TextSection>
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553304 ····​</​Disorder>553174 ····​</​Disorder>
553305 ····​<Disorder·​id="27325">553175 ····​<Disorder·​id="27325">
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553673 ······​<DisorderDisorderAsso​ciationList·​count="0">553543 ······​<DisorderDisorderAsso​ciationList·​count="0">
553674 ······​</​DisorderDisorderAssoc​iationList>553544 ······​</​DisorderDisorderAssoc​iationList>
553675 ······​<SummaryInformationLi​st·​count="0">553545 ······​<SummaryInformationLi​st·​count="1">
553546 ········​<SummaryInformation·​id="129251"·​lang="fr">
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553548 ············​<TextSection·​id="168381"·​lang="fr">
553549 ··············​<TextSectionType·​id="16907">
553550 ················​<Name·​lang="fr">Définition<​/​Name>
553551 ··············​</​TextSectionType>
553552 ··············​<Contents>Maladie·​rare·​des·​voies·​biliaires·​caractérisée·​par·​la·​compression·​extrinsèque·​et,​·​par·​la·​suite,​·​l'obstruction·​de·​la·​voie·​biliaire·​extra-​hépatique·​par·​un·​ou·​plusieurs·​calculs·​biliaires·​enclavés·​dans·​le·​canal·​cystique·​ou·​la·​vésicule·​biliaire.​·​Les·​patients·​peuvent·​manifester·​une·​cholécystite·​aiguë·​ou·​chronique·​et·​des·​douleurs·​dans·​la·​partie·​supérieure·​droite·​de·​l'abdomen,​·​des·​nausées·​et·​des·​vomissements,​·​un·​ictère·​ou·​une·​cholangite.​·​Des·​fistules·​cholécysto-​biliaires·​ou·​entériques·​peuvent·​se·​développer·​en·​raison·​d'une·​inflammation·​et·​d'une·​ulcération·​chronique.​</​Contents>
553553 ············​</​TextSection>
553554 ··········​</​TextSectionList>
553555 ········​</​SummaryInformation>
553676 ······​</​SummaryInformationLis​t>553556 ······​</​SummaryInformationLis​t>
553677 ····​</​Disorder>553557 ····​</​Disorder>
553678 ····​<Disorder·​id="11895">553558 ····​<Disorder·​id="11895">
563164 ······​</​ExternalReferenceList​>563044 ······​</​ExternalReferenceList​>
563165 ······​<DisorderDisorderAsso​ciationList·​count="0">563045 ······​<DisorderDisorderAsso​ciationList·​count="0">
563166 ······​</​DisorderDisorderAssoc​iationList>563046 ······​</​DisorderDisorderAssoc​iationList>
563167 ······​<SummaryInformationLi​st·​count="0">563047 ······​<SummaryInformationLi​st·​count="1">
563048 ········​<SummaryInformation·​id="129261"·​lang="fr">
563049 ··········​<TextSectionList·​count="1">
563050 ············​<TextSection·​id="168391"·​lang="fr">
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563052 ················​<Name·​lang="fr">Définition<​/​Name>
563053 ··············​</​TextSectionType>
563054 ··············​<Contents>Maladie·​hypophysaire·​génétique·​rare·​caractérisée·​par·​une·​déficience·​variable·​de·​toutes·​les·​hormones·​produites·​dans·​le·​lobe·​antérieur·​de·​l'hypophyse.​·​Les·​signes·​cliniques·​incluent·​l'hypothyroïdie,​·​l'hypogonadisme,​·​le·​retard·​de·​croissance·​et·​la·​petite·​taille,​·​ainsi·​qu'une·​insuffisance·​surrénale·​secondaire.​·​L'âge·​d'apparition·​est·​variable.​·​Les·​signes·​cliniques·​et·​les·​symptômes·​se·​développent·​généralement·​de·​manière·​progressive,​·​et·​le·​déficit·​des·​différentes·​hormones·​est·​souvent·​séquentiel.​</​Contents>
563055 ············​</​TextSection>
563056 ··········​</​TextSectionList>
563057 ········​</​SummaryInformation>
563168 ······​</​SummaryInformationLis​t>563058 ······​</​SummaryInformationLis​t>
563169 ····​</​Disorder>563059 ····​</​Disorder>
563170 ····​<Disorder·​id="27632">563060 ····​<Disorder·​id="27632">
570640 ······​</​ExternalReferenceList​>570530 ······​</​ExternalReferenceList​>
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